Glossary 2017-05-18T15:22:40+00:00



Ablation: Surgical destruction or removal of tissue, an organ, or a precise region of a particular structure. Ablation may involve surgical cutting (excision); chemical destruction, such as injection of phenol; or the use of high frequency electrical current or radio waves. For example, pallidotomy is a procedure used in the treatment of Parkinson’s disease or certain other movement disorders. The procedure involves surgical ablation of part of the internal portion of the globus pallidus (GPi)–i.e., a brain region involved in regulating movement–in an attempt to “rebalance” movement and posture control. Once a wire probe is inserted into and precisely positioned within the GPi, it heats and destroys adjacent tissue through the emission of radio waves.

Accelerometer: A device used to measure the rate of change in velocity over a specific period of time. Measures the rate or “speed” of the tremor cycle.

Acetylcholine (ACh): A neurotransmitter present at junctions of nerve and muscle cells and various sites of the central nervous system, including the cerebral cortex and the basal ganglia. Primary functions of acetylcholine include regulating the delivery of messages from neurons to skeletal muscle fibers, smooth (involuntary) muscle fibers, and effector organs as well as between nerve cells in the brain and spinal cord. Acetylcholine also functions as a vasodilator and triggers certain actions within the parasympathetic nervous system, such as lowering blood pressure and slowing heart and breathing rates.

Action tremor: a tremor that occurs during the performance of voluntary movements. Such tremors include postural, isometric, kinetic, and intention tremors.

Activities of daily living (ADL): functions that are typically performed as part of a person’s daily routine, such as dressing, bathing, eating, toileting, leisure activities, socialization, and other functions of daily living.

Acute: Referring to symptoms of abrupt onset, often of marked severity or intensity.

Adenosine triphosphate (ATP): ATP is the molecule that provides the energy in the cells of all living things.

Agonist: A muscle whose contraction executes an intended movement.

Akathisia: a neurologic condition of motor restlessness, manifested by a sensation of muscular quivering, an urge to constantly move about, and an inability to sit still.

Akinesia: absence of movement or loss of the ability to move such as temporary or prolonged paralysis or “freezing in place.”

Akinetic: Referring to absence or poverty of voluntary movement; loss of the ability to move all or part of the body.

Alpha 2-adrenergic agonist: A drug that reduces the activity of the neurotransmitter norepinephrine by stimulating certain receptors within the central nervous system (central presynaptic alpha 2-adrenergic receptors). The release of norepinephrine triggers action within the sympathetic nervous system. This part of the nervous system regulates certain involuntary activities during stress, such as increasing the heart rate, deepening breathing, and raising blood pressure. Norepinephrine also plays a role in regulating mood and emotion. The administration of alpha 2-adrenergic agonists may result in a reduced heart rate and lowered blood pressure and have depressive or sedative effects.

Alzheimer’s disease: A progressive degenerative disease of the brain of unknown cause. Alzheimer’s disease is characterized by widespread loss of nerve cells, particularly in the outer region of the brain (cerebral cortex), with distinctive neurodegenerative changes (including “senile plaques” and “neurofibrillary tangles”) and reduced activity of acetylcholine and other neurotransmitters of the brain. The disease is the most common cause of dementia or progressive deterioration of thought processing and acquired intellectual abilities. Associated symptoms include initial forgetfulness with increasingly severe memory impairment; disorientation and confusion; loss of the ability to recognize familiar people or objects through sensory stimuli (agnosia); and speech disturbances. The disorder may also be characterized by restlessness and agitation; an increasingly impaired ability to conduct purposeful movements; personality disintegration; and symptoms of psychosis, such as the perception of sights, sounds, or other sensations in the absence of external stimuli (hallucinations) and false beliefs of persecution despite evidence to the contrary (paranoid delusions).

Ambulant (ambulatory): Able to walk; may be used to describe patients who do not require a wheelchair or are not confined to bed.

Ambulation: The act of walking.

Amino acid: The chemical “building blocks” or basic structural units of proteins. All proteins in the body are formed from a “pool” of 20 different amino acids. Some are essential amino acids and must be supplied by the diet. The remainder are classified as “nonessential.” These can be made by the body and need not come from the diet.

Amniocentesis: A screening or diagnostic procedure during which a sample of amniotic fluid surrounding the developing fetus is withdrawn by means of an ultrasound-guided needle. The amniotic sac is a fluid-filled membrane that surrounds and protects the developing fetus within the uterus. Amniotic fluid contains cells that may be used for DNA analysis, chromosomal testing, and enzyme studies. Such testing may detect certain genetic disorders, metabolic diseases, chromosomal abnormalities, or developmental defects. This procedure is typically performed between the 14th and 18th week of pregnancy.

Amplitude: the “size” or “height” of a tremor; the extend or breadth of a tremor’s range.

Analog (Analogue): (1) A chemical compound or agent that is similar to another in structure yet differs concerning a particular element; it may have a similar or different mode of action. (2) A tissue, organ, or other bodily structure that has the same function or organization as another yet has a different evolutionary origin.

Antagonist: (1) A drug that blocks a receptor, preventing stimulation. (2) A muscle whose contraction opposes an intended movement.

Antibodies: Specialized proteins that function as an essential part of the immune system. Antibodies are produced by certain white blood cells (B cells) in response to the presence of specific, usually foreign proteins (i.e., antigens), helping the body to neutralize and destroy the invading microorganism, foreign tissue cell, or other antigen in question.

Anticholinergics: Drugs that block the action of acetylcholine, a neurotransmitter whose effects oppose dopamine. By blocking acetylcholine’s action, these drugs increase dopamine’s ability to control movement.

Anticholinesterase: An agent that inhibits action of acetylcholinesterase (AChE). AChE is an enzyme that inactivates acetylcholine, a neurotransmitter at the junctions of nerve and muscle cells (neuromuscular junctions) that regulates the delivery of messages from neurons to muscle fibers. By inhibiting the activity of AChE, such medications allow high levels of acetylcholine to accumulate, potentially enabling repeated stimulation of nerves at neuromuscular junctions.

Anticonvulsant medication: An agent that prevents or arrests convulsive seizures.

Antiemetic: A drug that reduces nausea and vomiting.

Antigen: Any substance that may trigger a particular immune response, such as the production of antibodies. Antigens may be foreign proteins of invading microorganisms (e.g., viruses, bacteria), toxins, or foreign tissue cells (e.g., used in transplantation).

Antihistamine: a drug that counters the effects of histamine, a compound that causes dilatation of capillaries, contraction of smooth muscle, and stimulation of gastric acid secretion and that is released during allergic reactions.

Antioxidants: Agents that inhibit or neutralize potentially harmful compounds known as free radicals. Free radicals are produced during metabolic activity. High levels of free radicals may eventually lead to impaired functioning and destruction of neurons and other bodily cells. Certain antioxidants are thought to neutralize free radicals before cellular damage occurs.

Aorta: The main artery of the body. The aorta receives oxygen-rich (oxygenated) blood from the lower left chamber (ventricle) of the heart for distribution to most arteries of the body, with the exception of the pulmonary artery, which distributes oxygen-deficient (deoxygenated) blood from the lower right ventricle to the lungs.

Apoptosis: Cell death due to a programmed pattern of gene expression; a form of cell death in which certain enzymes activate to degrade DNA within the nucleus, resulting in cellular degeneration and loss.

Apraxia: Loss of the ability to sequence, coordinate, and execute certain purposeful movements and gestures in the absence of motor weakness, paralysis, or sensory impairments. Apraxia is thought to result from damage to the cerebral cortex, such as due to stroke, brain tumors, head injury, or infection. It may also occur as a result of impaired development of the cortex as in certain neurodevelopmental disorders, including Rett syndrome. Apraxia may affect almost any voluntary movements, including those required for proper eye gaze, walking, speaking, or writing.

Archimedes spirals: a relatively simple test used to evaluate tremor severity. During this test, the patient is asked to draw increasingly wider circles on a piece of paper.

Asterixis: involuntary, jerking or flapping movements, especially of the hands. Extending the patient’s arm with the wrist bend in a backward position may induce this form of tremor, which may be associated with advanced liver disease.

Astrocyte: A type of glial cell. Glial cells are the connective tissue cells of the central nervous system (CNS), serving as the supportive structure that holds together and protects neurons. Astrocytes are relatively large glial cells with thread-like projections that connect with neurons and small blood vessels (capillaries). These projections form part of the so-called “blood-brain barrier.” This barrier slows or prevents the passage of unwanted substances, such as harmful chemicals, infectious agents, etc., from the bloodstream into the brain. Astrocytes also accumulate in areas where nerves have been damaged (astrocytosis), sealing off these areas. An excess of astrocytes in damaged areas of the CNS is known as gliosis.

Ataxia: A condition characterized by an impaired ability to coordinate voluntary movements. Ataxia may result from damage to the cerebellum, cerebellar pathways, or the spinal cord due to various underlying disorders, conditions, or other factors. These may include infection, head injury, stroke, brain tumors, neurodegenerative disorders, alcohol or drug intoxication, or certain hereditary diseases (e.g., Friedreich’s ataxia, ataxia-telangiectasia). Associated symptoms may vary, depending upon the site of damage within the central nervous system. However, the condition is often characterized by incoordination, postural imbalance, and a lurching, unsteady manner of walking (gait). Additional findings may include slurred speech (dysarthria); rapid, involuntary, rhythmic eye movements (nystagmus); and/or other abnormalities.

Ataxia-telangiectasia (AT): A hereditary, progressive disorder that typically becomes apparent in early childhood and is characterized by increasing neurodegenerative changes of the cerebellum, a brain region involved in producing coordinated voluntary movements, sustaining balance, and maintaining proper posture. Associated symptoms typically include delayed motor development; an unsteady, awkward manner of walking; drooling; impaired articulation of speech (dysarthria); dependence on thrusts of the head to achieve proper focusing of the eyes; and involuntary, rapid, jerky eye movements (nystagmus). Affected children may also develop involuntary, “shock-like” muscle spasms (myoclonus); sustained muscle contractions that result in repetitive twisting motions or unusual postures or positions (dystonia); or irregular, jerky, relatively rapid involuntary movements (chorea). AT is also typically associated with permanent widening (dilation) of groups of blood vessels (telangiectasias), particularly in sun-exposed skin regions of the face and the transparent membranes covering the whites of the eyes. In addition, AT is characterized by deficient functioning of the immune system (immunodeficiency), leading to recurrent respiratory and skin infections and an increased risk of certain malignancies (e.g., certain leukemias or lymphomas). The disorder, which is transmitted as an autosomal recessive trait, is thought to result from defective repair of DNA.

Athetosis: Involuntary, relatively slow, writhing movements that essentially flow into one another. Athetosis is often associated with chorea, a related condition characterized by involuntary, rapid, irregular, jerky movements. Although athetosis may be most prominent in the face, neck, tongue, and hands, the condition may affect any muscle group. Athetosis may occur in association with certain neurodegenerative diseases, such as Huntington’s or Wilson’s disease, or cerebral palsy (CP). It may also result from infections affecting the brain or the use of particular medications.

Atrophy: Wasting away or loss of a cell, tissue, or organ due to disease, malnutrition, insufficient blood supply, or other causes, such as loss of skeletal muscle mass due to peripheral nerve damage.

Attention-deficit/hyperactivity disorder: a diagnosis applied to children and adults who consistently display certain characteristic behaviors over a period of time. The most common behaviors fall into three categories: inattention, hyperactivity, and impulsivity.

Atypical: Irregular; not standard or characteristic; not conforming to type.

Atypical neuroleptics: Antipsychotic drugs that cause less parkinsonian side effects than older treatments for psychosis.

Auditory: Pertaining to the sense of hearing or the organs involved in hearing.

Augmentation: A phenomenon that may occur as a result of the use of certain medications (particularly levodopa). Augmentation is characterized by the emergence of worsening symptoms earlier in the day (e.g., early evening, afternoon, or morning). Many people who take levodopa and some who take other dopamingeric agents develop augmentation, especially those who have severe symptoms or are taking high doses of the drug.

Autoimmune: Referring to an immune response against one’s own tissues or organs. Autoimmune diseases result from abnormal immune reactions in which the actions of certain white blood cells (T cells) are directed against “self proteins” (autoantigens) or normal tissue components (i.e., cell-mediated immune response)–or in which specialized proteins (antibodies) produced in response to specific, usually foreign proteins (antigens) improperly act against certain of the body’s own cells (i.e., antibody-mediated immune response). In certain disorders, the autoimmune process may be primarily directed against one organ, such as the thyroid gland in Hashimoto’s thyroiditis or the pancreas in insulin-dependent diabetes mellitus, or may involve multiple organs and bodily systems, such as associated with systemic lupus erythematosus (lupus or SLE).

Autonomic: The autonomic nervous system controls most of the involuntary reflexive activities of the human body. The system is constantly working to regulate the glands and many of the muscles of the body through the release or uptake of the neurotransmitters acetylcholine and norepinephrine. The autonomic nervous system is made up of two primary parts: the sympathetic and parasympathetic systems. The sympathetic nervous system prepares the body for emergencies or times of stress and is responsible for the body’s “fight or flight” response when faced with a dangerous situation. During this response, the heart rate and blood pressure increase, the pupils of the eye dilate, and the digestive system slows down. The parasympathetic system helps the body’s functions return to normal after they have been stimulated by the sympathetic nervous system and also has some responsibility for keeping the body’s immune system properly functioning.

Autonomic dysregulation: This term infers the malfunction of the autonomic nervous system, the portion of the nervous system that conveys impulses between the blood vessels, heart, and all the organs in the chest, abdomen, and pelvis and the brain (mainly the medulla, pons and hypothalamus).

Autonomic nervous system: The autonomic nervous system (ANS) controls most of the involuntary reflexive activities of the human body. The system is constantly working to regulate the glands and many of the muscles of the body through the release or uptake of the neurotransmitters acetylcholine and norepinephrine. The autonomic nervous system is made up of two primary parts: the sympathetic and parasympathetic systems. The sympathetic nervous system prepares the body for emergencies or times of stress and is responsible for the body’s “fight or flight” response when faced with a dangerous situation. During this response, the heart rate and blood pressure increase, the pupils of the eye dilate, and the digestive system slows down. The parasympathetic system helps the body’s functions return to normal after they have been stimulated by the sympathetic nervous system and also has some responsibility for keeping the body’s immune system properly functioning.

Autosomal dominant trait: Human traits, including an individual’s eye color, hair color, or expression of certain diseases, result from the interaction of one gene inherited from the father and one gene from the mother. In autosomal dominant disorders, the presence of a single copy of a mutated gene may result in the disease. In other words, the mutated gene may dominate or “override” the instructions of the normal gene on the other chromosome, potentially leading to disease expression. Individuals with an autosomal dominant disease trait have a 50 percent risk of transmitting the mutated gene to their children.

Autosomal recessive trait: Human traits, including an individual’s hair color, specific blood group, or expression of certain diseases, result from the interaction of one gene inherited from the mother and one from the father. With autosomal recessive disorders, two copies of the disease gene must be inherited in order for an individual to potentially develop the disease. If both the mother and father carry a copy of the disease gene, each child has a 25 percent risk of inheriting the two genes for the disease. There is a 50 percent risk that their children may inherit one copy of the disease gene and be carriers for the disease trait (heterozygous carriers). In addition, there is a 25 percent chance that the parents’ offspring will inherit two normal copies of the gene and will not develop the disorder nor be carriers for this disease trait.

Axons: Nerve fibers. Axons are the relatively slender extensions of neurons that transmit nerve impulses away from nerve cell bodies. The ends of the axons or “terminals” release chemical substances known as neurotransmitters, enabling the transmission of nerve impulses to other neurons or effector organs. The whitish, fatty, protein-containing substance called myelin forms an insulating, protective, cylindrical sheath around some axons, serving to increase the speed and efficiency of nerve impulse transmissions.

– return to top of page –


Baclofen: A mainstay of antispastic drug therapy, baclofen is a GABA agonist that stimulates the GABAB autoreceptor. When stimulated, this autoreceptor inhibits muscle activity. In experimental systems, baclofen inhibits the release of noradrenaline, and acetylcholine from peripheral nerve endings, and acetylcholine, noradrenaline, dopamine, serotonin, and glutamate from CNS neurons.

Ballismus: An abnormal neuromuscular condition that is generally considered a severe form of chorea. Involvement of the upper muscles of the arms and legs results in uncontrolled, violent, flinging or throwing actions. These swinging or jerky movements may be sporadic or continuous and, in some patients, restricted to one side of the body (hemiballismus). Ballismus often occurs in association with other abnormal involuntary movements, including athetosis, chorea, and dystonia.

Basal ganglia: Specialized nerve cell clusters of gray matter deep within each cerebral hemisphere and the upper brainstem, including the striate body (caudate and lentiform nuclei) and other cells groups such as the subthalamic nucleus and substantia nigra. The basal ganglia assist in initiating and regulating movement.

Benign myoclonus of infancy: A neurologic condition that typically becomes apparent by approximately 4 months of age. Affected infants and children experience relatively short, mild episodes of myoclonus, or sudden, involuntary, “shock-like” spasms of muscles, particularly of the head, neck, trunk, and arms. Development is typically normal, and myoclonus usually ceases by age 2 or 3.

Benzodiazepines: A class of medications that act upon the central nervous system to reduce communication between certain neurons, lowering the level of activity in the brain. Benzodiazepines are effective in reducing anxiety, stress, or agitation; promoting sleep; alleviating restlessness; and relaxing muscles.

Beta-adrenergic receptor: a specialized molecular structure on the surface membrane of a neuron that selectively receives the neurotransmitter norepinephrine. Reception of this neurotransmitter causes changes in the neuron that increase its likelihood of “firing” or sending its own signal to other neurons. The activities of norepinephrine affect that part of the nervous system involved in the control of some involuntary body functions, such as blood pressure regulation, etc. (sympathetic nervous system).

Bilateral: Having or affecting two sides.

Biosynthesize: To form or produce (during normal physiologic functions) a chemical compound in the body.

Biphasic: having two distinct stages or phases.

Body mass index: The body mass index is a measure of body fat that is based on a person’s height and weight.

Botulinum toxin (BTX): Any of a group of toxins, designated as A through G, produced by Clostridium botulinum bacteria. Localized injection of minute amounts of commercially prepared BTX may help to relax an overactive muscle by blocking the release of acetylcholine, a neurotransmitter responsible for the activation of muscle contractions. BTX-A is currently the only form (i.e., serotype) of botulinum toxin approved for clinical use. (BTX-A [BOTOX®] is produced by Allergan, Inc. and used in the United States and many other countries. Outside the U.S., it is available as Dysport® from Ipsen, Ltd.) It was originally introduced in the 1970s for the treatment of misalignment of the eyes (strabismus) and involuntary contraction of eyelid muscles (blepharospasm) associated with dystonia or facial nerve disorders. BTX-A is now increasingly being used as a therapeutic option for selected patients with other disorders characterized by severely increased muscle activity (hyperactivity), such as tremor, other focal dystonias, and spasticity. BTX-B is currently under investigation (by Athena Neurosciences, Inc.) for patients with cervical dystonia.

Bradykinesia: The gradual loss of spontaneous movement; slowness of voluntary movements.

Brainstem: The region of the brain consisting of the medulla oblongata, pons, and midbrain. The brainstem primarily contains white matter interspersed with some gray matter. This area of the brain serves as a two-way conduction path, conveying nerve impulses between other brain regions and the spinal cord. In addition, most of the 12 pairs of cranial nerves from the brain arise from the brainstem, regulating breathing, digestion, heartbeat, blood pressure, pupil size, swallowing, and other basic functions.

Branched-chain amino acids: the essential amino acids, isoleucine, leucine, and valine.

Bruxism: Involuntary grinding, clenching, or gnashing of the teeth, particularly during sleep or times of stress. Without appropriate protection, such as the use of night guards that cover the teeth, severe dental problems may result. Bruxism may also be a feature of certain neurologic movement disorders, including dystonia of the jaw, mouth, and lower face (oromandibular dystonia [OMD]), Rett syndrome, or tardive dyskinesia.

Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS): The BFMDRS is a weighted scale that measures the severity and provoking factors for dystonia in 9 body areas, including the eyes, mouth, speech or swallowing, neck, right and left arms, trunk, and right and left legs.

– return to top of page –


Cabergoline: Cabergoline is an ergotamine-based dopamine-receptor agonist with a half-life of 65 hours. In the United States, it is marketed as Dostinex for the treatment of the rare disorder, hyperprolactinaemia, or high levels of the hormone prolactin.

Carbidopa: Carbidopa is a drug that, when combined with levodopa, slows the peripheral breakdown of the levodopa, thereby allowing more of the levodopa to enter the brain.

Carbonic anhydrase inhibitors: A class of medications that inhibits activity of the enzyme carbonic anhydrase. This zinc-containing enzyme is present in red blood cells and the renal tubules. These tubules form part of the filtering units of the kidneys. Carbonic anhydrase activity serves to accelerate the transfer of carbon dioxide from tissue to the blood and on to the lungs. By restricting carbonic anhydrase activity, these agents decrease hydrogen ion concentrations in the renal tubules, increasing excretion of sodium, potassium, bicarbonate, and water. Certain carbonic anhydrase inhibitors are prescribed to promote urinary production and excretion (i.e., as diuretics) or to lower fluid pressure within the eyes for those with glaucoma. They are also used to treat other conditions including epilepsy or certain neurologic movement disorders.

Carnitine: A natural substance found in skeletal and cardiac muscle and the liver. Carnitine serves to transport fatty acids across mitochondrial membranes, thereby playing an important role in energy production and the metabolism of fatty acids.

Catecholamine: any of a group of hormones that are catechol derivatives, e.g., adrenaline and noradrenaline.

Caudate nuclei: One of the 3 major substructures that, together with the globus pallidus and putamen, form the basal ganglia. The caudate nuclei and putamen, which are relatively similar structurally and functionally, are collectively known as the striatum. Specialized clusters of nerve cells or nuclei within the caudate receive input from certain regions of the cerebral cortex. This information is processed and then relayed (by way of the thalamus) to areas of the brain responsible for controlling complex motor functions. The caudate nuclei are specifically thought to process and transmit cognitive information that influences the initiation of complex motor activities.

Central nervous system (CNS): The brain and spinal cord. The CNS, which receives sensory impulses from and sends motor impulses to the peripheral nervous system (i.e., nerves outside the CNS), plays an essential role in the coordination and control of the entire body.

Central oscillators: nerve cells that discharge signals that result in alternating fluctuations of electrical impulses along certain tracts of the central nervous system.

Cerebellum: A two-lobed region of the brain located behind the brainstem. The cerebellum receives messages concerning balance, posture, muscle tone, and muscle contraction or extension. Working in coordination with the basal ganglia and thalamus, the cerebellum integrates, adjusts, and refines messages transmitted to muscle groups from the cerebral cortex (i.e., motor cortex). Thus, the cerebellum plays an essential role in producing smooth, coordinated voluntary movements; maintaining proper posture; and sustaining balance.

Cerebral cortex: The outer region of the brain’s cerebral hemispheres. Comprised of gray matter, the cerebral cortex contains several deep folds (gyri) and grooves (sulci or fissures). Two sulci divide the surfaces of both cerebral hemispheres into four distinct lobes that are named for overlying bones of the skull. These include the frontal, temporal, occipital, and parietal lobes. The cerebral hemispheres are joined by a thick band of nerve fibers known as the corpus callosum. The cerebral cortex is responsible for integrating higher mental functioning and conscious thought, sensations, and general movements.

Cerebrospinal fluid (CSF): The fluid that flows through and protects the 4 cavities (ventricles) of the brain, the spinal cord’s central canal, and the space (known as the subarachnoid space) between the middle and inner layers of the membrane (meninges) enclosing the brain and spinal cord. Laboratory analysis of CSF, usually obtained via lumbar puncture, may help to diagnose central nervous system infections, certain tumors, or particular neurologic disorders. During lumbar puncture, CSF is removed from the spinal canal via a hollow needle inserted between certain bones of the spinal column within the lower back (i.e., usually the third and fourth lumbar vertebrae).

Chemodenervation: Interruption of a nerve impulse pathway via administration of a chemical substance, such as botulinum toxin (BTX). For example, intramuscular injections of BTX produce local relaxation of treated muscles by inhibiting the release of acetylcholine, a neurotransmitter that is present at the junctions of nerve and muscle cells and that regulates the delivery of messages from neurons to muscle fibers.

Chorea: Jerky, irregular, relatively rapid involuntary movement that primarily involves muscles of the face or extremities. Choreic movements are relatively simple and discrete or highly complex in nature. Although involuntary and purposeless, these movements are sometimes incorporated into deliberate movement patterns. When several choreic movements are present, they often appear relatively slow, writhing, or sinuous, resembling athetosis. Chorea may occur in association with certain neurodegenerative diseases, including Wilson’s disease and Huntington’s disease, or systemic disorders, such as lupus. In addition, chorea is a dominant feature in Sydenham’s chorea or may result from the use of certain medications, such as particular anticonvulsant or antipsychotic agents.

Chorionic villus sampling (CVS): A screening and diagnostic procedure performed during which tissue samples are obtained from a portion of the placenta using a specially guided needle via ultrasound. The placenta is the organ attached to the lining of the uterus that links the blood supplies of the developing fetus and the mother. The tissue sample is obtained from the layer from which the chorionic villi develop. Blood from the fetus flows through the umbilical cord to the placenta and enters minute blood vessels arranged in multiple “thread-like” projections or chorionic villi surrounded by maternal blood. Tissue samples obtained during chorionic villus sampling are analyzed to detect certain genetic or chromosomal abnormalities.

Chromosomes: The thread-like structures within the nuclei of cells comprised of DNA. Deoxyribonucleic acid or DNA carries genetic information involved in directing cellular activities, thus controlling bodily growth and functioning and determining the expression of inherited traits. The chromosomes contain thousands of hereditary units known as genes or segments of DNA molecules. The nuclei of all human cells–except the reproductive (i.e., egg and sperm) cells–normally contain 46 chromosomes, with one of each pair from the father and one from the mother. The chromosomal pairs are numbered from 1 through 22, as well as a 23rd pair that includes one X chromosome from the mother and an X or a Y chromosome from the father. In females, the 23rd pair consists of two X chromosomes, whereas males have one X and one Y chromosome. All chromosomes have a short arm known as “p” and a long arm known as “q.” Both chromosomal arms are subdivided into numbered bands.

Circadian: A rhythm of biological functions occurring in a 24-hour periodic cycle (e.g., sleeping, eating, etc.).

Clonus: movements characterized by alternate contractions and relaxations of a muscle, occurring in rapid succession. Clonus is frequently observed in conditions such as spasticity and certain seizure disorders.

Co-contraction: The simultaneous contraction of agonist and antagonist muscles.

Cognition: Cognition involves thinking skills such as perception, memory, awareness, reasoning, judgment, intellect, and imagination.

Cogwheel phenomenon: rhythmic brief increase in resistance during passive movement about a joint.

Complementary and alternative medicine: Complementary and alternative medicine, as defined by National Institutes of Health, is a group of diverse medical and health-care systems, practices, and products that are not presently considered to be part of conventional medicine.

Composite Autonomic Scoring Scale: The Composite Autonomic Scoring Scale is a battery of validated, sensitive, and specific tests for the assessment of autonomic nervous systems, resulting in a 10-point composite score.

Computerized tomography (CT) imaging or scanning: An advanced diagnostic scanning technique during which cross-sectional images of tissues and organs are produced by passing x-rays through the body at various angles. In some cases, a contrast medium, which is opaque on x-rays, may be injected intravenously to produce enhanced images of certain tissues, organs, or blood vessels.

COMT inhibitors: Drugs that block catechol-O-methyltransferase, an enzyme that breaks down dopamine. COMT inhibitors include entacapone (Comtan®) and tolcapone (Tasmar®).

Congenital: Existing at birth.

Contractures: Fixed resistance to passive stretching of certain muscles due to shortening or wasting (atrophy) of muscle fibers or the development of scar tissue (fibrosis) over joints.

Contralateral: the opposite side. For example, during brain surgery for essential tremor, if the surgery is performed on the right side of the brain, the left side of the body will be affected.

Controlled-release formulation: A form of a drug (e.g., L-dopa) that is absorbed slowly by the digestive system, prolonging the duration of effect of each dose.

Corticobasal degeneration (CBD): A slowly progressive disorder characterized by neurodegenerative changes of certain brain regions, including the cerebral cortex (particularly the frontal and parietal lobes) and parts of the basal ganglia. Most patients initially develop symptoms in their 60s or 70s. Primary findings may include stiffness (rigidity); slowness of movement (bradykinesia); loss of the ability to coordinate and execute certain purposeful movements of the arms or legs (limb apraxia); the sensation that a limb is not one’s own (“alien limb phenomenon”); and other sensory abnormalities. Affected individuals may also develop slurred, labored speech (dysarthria); dystonia; and irregular, involuntary, “shock-like” contractions of certain muscle groups, particularly of the hands and forearms, that may be provoked or aggravated by voluntary movement and certain external stimuli (action and reflex myoclonus).

Corticospinal: Referring to or connecting the outer region of the brain (cerebral cortex) and the spinal cord.

Corticosteroid agents: Synthetic medications similar to corticosteroid hormones, which are naturally produced by the outer regions of the adrenal glands (adrenal cortex). Corticosteroid agents may be prescribed to treat inflammatory conditions; as long-term therapy to suppress the immune system (immunosuppressive therapy) in order to prevent rejection of a transplanted organ; as hormone replacement therapy for those with insufficient levels of natural corticosteroid hormones; or as therapy for other conditions. High dose, long-term corticosteroid therapy may result in various adverse effects, including an increased susceptibility to infection; osteoporosis, a bone disorder characterized by a progressive loss of bone mass; high blood pressure (hypertension); tissue swelling (edema); or retarded bone growth in children.

Cranial: Of or from the cranium or skull.

Cranial nerve nuclei: Specialized groups of nerve cells (nuclei) that give rise to and convey or receive impulses from sensory and motor constituents of the cranial nerves, which are the 12 pairs of nerves that emerge from the brain. These nerve pairs convey sensory impulses for various functions including taste, smell, hearing, and vision; motor impulses involved in controlling eye movements, chewing, swallowing, facial expressions, etc.; and impulses for transmission to certain organs and glands for regulation of various involuntary or autonomic activities.

Cranial neuropathy: Disease or damage of a cranial nerve or nerves. The cranial nerves are the 12 nerve pairs that arise directly from the brain and are involved in conveying impulses for various functions including smell, hearing, vision, and taste; pupil contraction; eye movements; facial expressions; movements of the tongue, head, and shoulders; etc. Cranial neuropathy may result in associated muscle weakness; abnormal sensations, such as numbness, tingling, or pain; or other findings. Specific symptoms depend upon the specific nerve(s) affected.

Creutzfeldt-Jakob disease (CJD): A rare, degenerative, life-threatening brain disorder characterized by severe, progressive dementia; visual disturbances; muscle weakness; and abnormal involuntary movements, such as sudden, brief, “shock-like” muscle spasms (myoclonus), tremor, and relatively slow writhing motions that appear to flow into one another (athetosis). Although CJD usually appears to occur sporadically, about 10 percent of cases are familial, potentially suggesting a hereditary predisposition to the disease. In rare cases, CJD may also result from exposure to contaminated surgical instruments during brain surgery and was reported in the past due to therapy with pituitary-derived human growth hormone. In addition, a variant form of CJD (V-CJD) has been reported primarily in the United Kingdom; V-CJD has been potentially linked to consumption of beef from cows with bovine spongiform encephalopathy or BSE (so-called “mad cow disease”). Evidence suggests that CJD may be caused by mutations in the human prion* protein gene or contamination with abnormal prion protein. (*The term “prion” was named for “protein infectious agent.”) Changes in the prion protein appear to lead to distinctive neurodegenerative abnormalities, i.e., relatively small, round, “sponge-like” (spongiform) cavities or gaps in certain brain regions. CJD and BSE belong to a group of related neurodegenerative disorders categorized as “transmissible spongiform encephalopathies.”

Crossreact: Refers to the interaction of an antibody with an antigen that did not specifically or originally trigger its production. For example, in an abnormal autoimmune reaction, an antibody that was initially formed in response to an invading bacterium may inappropriately react against certain of the body’s own tissues that contain some of the same amino acid sequences as within the microorganism.

Cytokine: Cytokines are small proteins that regulate the body’s immunity, inflammation, and blood-cell production responses.

Cytoplasm: The cytoplasm is the part of the cell that surrounds the nucleus.

– return to top of page –


DC inhibitors: Drugs that block decarboxylase, one type of enzyme that breaks down dopamine. Also called AADC inhibitors, they include carbidopa and benserazide.

Decarboxylase: A category or subclass of enzymes that removes or eliminates a molecule of carbon dioxide from a carboxylic group. Carbidopa is an inhibitor of the decarboxylation of levodopa.

Degenerative: Marked by or pertaining to deterioration; particularly, deterioration of the function or structure of tissue or changes from a higher to a lower or less functionally active form.

Delirium: A state of frenzied excitement or wild enthusiasm.

Delusions: Persistent, aberrant beliefs

Dementia: A neurological condition characterized by a progressive decline in intellectual functioning, resulting in impaired judgment, memory, and abstract thinking; disorientation; and personality disintegration. Dementia may result due to various underlying conditions, including certain neurodegenerative diseases, such as Alzheimer’s disease or Huntington’s disease; brain injury or tumors; inflammation of the brain (encephalitis); successive strokes; or a condition known as normal-pressure hydrocephalus, which is characterized by enlargement of cavities (ventricles) of the brain, with cerebrospinal fluid (CSF) pressure at the upper end of normal. (CSF flows through and protects the ventricles of the brain, the spinal canal, and the space between layers of the membrane [meninges] enclosing the brain and spinal cord.) Normal-pressure hydrocephalus is associated with dementia, gait disturbances, and an inability to control urination (urinary incontinence).

Dendrites: The relatively narrow, branching projections that extend from the cell bodies of neurons. Nerve cells may contain multiple dendrites, which are stimulated by neurotransmitters, receive impulses from the nerve fibers (axons) of other neurons, and convey them toward their nerve cell bodies.

Dentatorubropallidoluysian atrophy: A rare genetic disorder that is most commonly described in Japan. Associated symptoms may become apparent in adolescence or adulthood. Early-onset disease may be characterized by rapidly progressive neurodegenerative changes, including seizures, cognitive impairment, and brief, “shock-like” muscle spasms of certain muscles or muscle groups (myoclonus). Late-onset disease may be associated with progressively impaired control of voluntary movement (ataxia) and symptoms often seen in Huntington’s disease (HD), including chorea and gradual loss of thought processing and acquired intellectual abilities (dementia). Brain imaging studies typically reveal degenerative changes of the globus pallidus and specialized nerve cell clusters within the cerebellum (dentate nucleus). Similar to HD, the disorder may result from abnormally long sequences or “repeats” of particular coded instructions (unstable expanded CAG repeats) within a gene (located on chromosome 12).

Detoxification: Detoxification is the process of removing or neutralizing toxins in the body

Diaphragm: The dome-shaped muscle that separates the chest and abdomen. The diaphragm plays an essential role in breathing, contracting when air is drawn into the lungs and relaxing upon exhalation.

Differential diagnosis: Distinguishing between two or more diseases and conditions with similar symptoms by systematically comparing and contrasting their clinical findings, including physical signs, symptoms, as well as the results of laboratory tests and other appropriate diagnostic procedures.

Diuretics: Medications that promote the excretion of urine. Such medications are often prescribed to help reduce excess fluid levels in the body, such as associated with chronic heart failure, high blood pressure (hypertension), or certain kidney (renal) or liver (hepatic) disorders. Diuretics help to remove excess water from the body by increasing the amount that is excreted as urine.

DNA: Deoxyribonucleic acid. DNA is a spiraling, ladder-like (helical) molecule that is the carrier of the genetic code. Nucleic acids are the primary components of the chromosomes within the nuclei of cells. DNA is also found in mitochondria, the rod-like structures outside the nuclei of cells that function as a primary source of cellular energy.

Dopamine: A neurotransmitter that controls movement and balance and is essential to the proper functioning of the central nervous system (CNS). Dopamine assists in the effective transmission of electrochemical signals from one nerve cell (neuron) to another.

Dopamine agonist (DA): A drug that acts like dopamine. DAs combine with dopamine receptors to mimic dopamine actions. Such medications stimulate dopamine receptors and produce dopamine-like effects.

Dopamine autoreceptor: A type of dopamine receptor that acts like a thermostat, preventing excess dopamine release as levels rise.

Dopamine receptor: A molecule on a receiving nerve cell (neuron) that is sensitive (or receptive) to stimulation (arousal) by dopamine or a dopamine agonist. At least five types have been identified including D1, D2, D3 receptors and the dopamine autoreceptor.

Dopamine receptor antagonist: A pharmacologic agent that binds to and blocks the action of dopamine receptors, essentially hindering receptor activity by preventing stimulation by dopamine.

Dopamine transporter: Dopamine is a chemical in the body that allows one nerve cell to send a message or signal to another nerve cell and helps to control movement. After dopamine finishes sending its message, a substance called a dopamine transporter carries the dopamine back from the nerve ending to the cell that produced it so that the dopamine can be reused. The number of dopamine transporters is a sign of the number of nerve endings that produce or release dopamine.

Dopaminergic: Having the effect of dopamine or related to dopamine-producing cells

Dopaminergic dysfunction: Malfunction of dopamine receptors.

Double-blind trial: A double-blind trial is a clinical experiment in which neither the patients nor the researchers are aware of which patients are receiving the active treatment and which are receiving placebo.

Dysarthria: Disordered or impaired articulation of speech due to disturbances of muscular control, usually resulting from damage to the central or peripheral nervous system. Dysarthria is associated with certain neurodegenerative disorders, such as Parkinson’s disease or Huntington’s disease; cerebral palsy; brain tumors or stroke; or certain types of brain surgery.

Dysesthesias: Unpleasant sensations that are produced in response to normal stimuli.

Dyskinesias: Abnormal neuromuscular conditions characterized by disorganized or excessive movement (also known as hyperkinesia). Forms of dyskinesia include sudden, brief, “shock-like” muscle contractions (myoclonus); involuntary, rhythmic, oscillatory movements of a body part (tremor); rapid involuntary jerky movements (chorea); relatively slow writhing motions (athetosis); or abrupt, purposeless, simple or complex muscle movements or vocalizations (motor or vocal tics).

Dyskinesias while awake (DWA): Uncontrolled, sporadic movements of the legs and, in some cases, the arms. These movements may be very rapid (myoclonic) or quite slow and prolonged (dystonic); they usually disappear upon voluntary action. Some researchers suspect that these movements may represent a wakeful form of periodic limb movements in sleep (PLMS).

Dysphagia: Difficulty in swallowing. Dysphagia may be associated with esophageal obstruction as well as certain neurodegenerative or motor disorders involving the esophagus.

Dyspraxia: Partial loss of the ability to coordinate and perform certain purposeful movements and gestures in the absence of motor or sensory impairments.

Dystonia: A neurologic movement disorder characterized by sustained muscle contractions, resulting in repetitive, involuntary, twisting or writhing movements and unusual postures or positioning. Dystonia may be limited to specific muscle groups (focal dystonia), such as dystonia affecting muscles of the neck (cervical dystonia or spasmodic torticollis) or the eyes, resulting in closure of the eyelids (blepharospasm). Dystonia is associated with certain underlying genetic disorders, such as dystonia musculorum deformans, dopa-responsive dystonia, and paroxysmal kinesigenic and paroxysmal non-kinesigenic dystonic choreoathetosis. The condition may result from the use of certain medications, lack of oxygen during or immediately after birth, or other causes of brain trauma.

Dystonic: Referring to dystonia; sudden jerky or repetitive movements and muscle spasms due to impaired muscle tone and abnormal muscle rigidity.

DYT-1 dystonia: The DYT-1 gene regulates or “encodes” production of a protein called torsinA. Although its specific function is not know, torrsinA appears to be related to a class of proteins that enable cells to recover from injury or stress. The change, or mutation, that causes DYT-1 dystonia involves one of a pair of three basic chemical “building blocks” of DNA. These are called guanine, adenine, and guanine, or “GAG” trinucleotides and are part of the genetic code within the DYT-1 gene. The specific mutation that occurs in DYT-1 dystonia is an absence, or deletion, of GAG. This relatively tiny change in the blueprint for torsinA apparently causes critical changes in the function of the protein and may lead to the symptoms of dystonia.

– return to top of page –


Echocardiogram: An echocardiogram is a medical test that is used to study the structure and function of the heart. A computer captures echoes that are created from sound waves (ultrasound).

Economic burden: Economic burden involves both direct medical costs such as expenditures for drugs, physicians, and institutions, as well as indirect costs due to lost wages from illness, premature death, and disability.

Edema: Fluid accumulation in the tissues causing swelling.

Edentulousness: lack of permanent teeth.

Effector organs: Organs that produce a nerve-stimulated effect, such as a muscle contraction or glandular secretion.

Electrical stimulation (ES): A test in which a small electrical charge is applied to a muscle via a needle to determine the level of muscle responsiveness.

Electrocardiogram (ECG, EKG): A noninvasive, diagnostic test that assesses the electrical activity of the heart muscle (myocardium). The heart’s conduction system transmits electrical impulses that serve to coordinate contractions of the heart. During an ECG, the electrical activity of the cardiac conduction system is translated into recordings that assist in evaluating any abnormal alterations. The test may be administered while a patient is at rest or performing certain designated exercises. ECGs may help to detect or characterize cardiac conduction defects, abnormal heart rhythms (arrhythmias), enlargement (cardiac hypertrophy), or localized damage in heart muscle.

Electroencephalography (EEG): A noninvasive, diagnostic technique that records the electrical impulses produced by brain cell activity. An EEG reveals characteristic brain wave patterns that may assist in the diagnosis of particular neurologic conditions, such as seizure disorders, impaired consciousness, and brain lesions or tumors.

Electromyography (EMG): A diagnostic test that records the electrical responses of skeletal muscles while at rest and during voluntary action and electrical stimulation. During this test, a small needle is inserted into a muscle to record the level of activity.

Electron microscopy: An electron microscope beams electrons, instead of light beams, to magnify an object, providing very detailed images that are approximately 1000 times the magnification of a typical light-beam microscope.

Electrophysiologic recording: Electrophysiologic recordings include the study of the electrical activity associated with a specific body function (e.g., electromyogram [muscles], electroencephalogram [brain waves], etc.).

Electrophysiologic studies: The study of the electrical activity associated with a specific body function (e.g., EMG, EEG, etc.).

Encephalitis: Inflammation of the brain. Encephalitis is most commonly caused by certain viral infections or may occur subsequent to prior infection due to immune reactions that indirectly result in inflammation (postinfectious encephalitis). Although associated symptoms and findings may be variable, features may include fever, headache, irritability, listlessness (lethargy), and weakness. Some affected individuals may also develop confusion, disturbances of speech and memory, abnormal involuntary movements, paralysis of one side of the body, seizures, and/or coma. For those with involvement of the protective membranes enclosing the brain and spinal cord (meningitis), characteristic findings may include nausea, vomiting, stiffness of the neck, abnormal sensitivity to light (photophobia), and/or other symptoms.

Encephalopathies: Any abnormal conditions or diseases of the structure or function of the brain, particularly chronic, degenerative conditions.

Endogenous opiate system: A morphine-like substance that is produced within the body.

Endoplasmic reticulum (ER): The ER consists of a membrane system that branches out through the cytoplasm and includes rough ER, which is found in eukaryotic cells and contains ribosomes, and smooth ER, which is biochemically similar to rough ER but lacks ribosomes.

Endotoxin: An endotoxin is a poisonous substance that is released from bacteria after the bacteria die or break apart.

Enzyme: A protein produced by cells that accelerates the rate of or “catalyzes” a specific chemical reaction in the body without being consumed or permanently changed in the process. A chemical substance that is acted upon by an enzyme is called a “substrate.” In many cases, enzymes are named by adding the suffix “-ase” to the name of the substrate upon which the enzyme exerts its action.

Epidemiological study: examination of the distribution of disease as well as the determining factors related to specific diseases or health-related problems in a specific population.

Ergot: A plant alkaloid produced by the fungus Claviceps purpurea.

Ergot-derived medication: A medication that has a chemical structure based on ergot, a plant alkaloid produced by a fungus called Claviceps purpurea. Permax® and Parlodel® are examples of ergot-derived medications that may be used to treat certain neurologic movement disorders.

Esophageal atony: Lack of normal muscle tone within the esophagus, the muscular tube that transports food from the throat to the stomach.

Essential tremor (ET): A common, slowly and variably progressive neurologic movement disorder characterized by involuntary, rhythmic, “back and forth” movements (i.e., tremor) of a body part or parts. In ET patients, tremor is primarily a “postural” or “kinetic” tremor or may be a combination of both types: i.e., tremor occurs while voluntarily maintaining a fixed position against gravity (postural tremor) and/or when conducting self-directed, targeted actions (kinetic intention tremor). In many individuals with ET, both hands are affected, although the condition may sometimes initially be noted in the dominant hand. ET also frequently affects the head, with tremor occurring in a “no-no” horizontal pattern in about three quarters of patients and the remainder affected by vertical “yes-yes” tremors. Less commonly, patients have tremor involving the voice, tongue, or roof of the mouth (palate), leading to impaired articulation of speech (dysarthria). Rarely, tremor may affect the trunk or lower limbs, particularly with advanced stages of disease. ET may appear to occur randomly for unknown reasons (sporadically) or be transmitted as an autosomal dominant trait.

Estrogen: (1) Any of several, naturally occurring female sex hormones that promote the development of female secondary sexual characteristics and the proper functioning of the reproductive system; (2) synthetically produced agents used in birth control pills (oral contraceptives) or in the treatment of symptoms of menopause; osteoporosis, which is a bone disorder characterized by a progressive loss of bone mass; particular types of advanced postmenopausal breast cancer and prostate cancer; and other conditions.

Eukaryotic: Meaning literally “true nucleus,” eukaryotic organisms include protists, plants, animals and fungi, all of which have separate membrane-bound nuclei that contain genetic material (mDNA).

Executive function: Executive function refers to a person’s ability to establish a goal and then make decisions and put into action activities to meet that goal.

Exon: An exon is a region of a gene that contains part of the code for producing the gene’s protein. Each exon codes for a specific portion of the complete protein. Exons are separated by long regions of DNA (called introns or sometimes “junk DNA”) that have no apparent function.

Extrapyramidal system: Refers to central nervous system structures (i.e., outside the cerebrospinal pyramidal tracts) that play a role in controlling motor functions. The extrapyramidal system includes substructures of the basal ganglia and the brainstem and interconnections with certain regions of the cerebellum, cerebrum, and other areas of the central nervous system. Extrapyramidal disturbances may result in postural and muscle tone abnormalities as well as the development of certain involuntary movements.

– return to top of page –


Feldenkrais: Feldenkrais is a method of improving the body’s ability to function, learn, and change by increasing awareness of movement, posture, and breathing.

Fibrosis: Build-up of fibrous tissue in an abnormal place in the body.

First-degree relatives: First-degree relatives include a person’s mother, father, brothers, sisters, sons, and daughters who are related by blood and not through adoption or marriage.

Flexion: The act of bending (as opposed to extending) a joint.

Food and Drug Administration (FDA): The FDA is a federal agency charged with ensuring that the food supply in the United States is safe and wholesome, that cosmetics are not harmful, and that medicines, medical devices, and radiation-emitting consumer products are safe and effective.

Free radicals: Unstable molecular fragments that can damage cells. One hypothesis holds that free radical formation in the substantia nigra causes the loss of nigral cells (leading to Parkinson’s disease).

Frequency: number of cycles or repetitions within a fixed unit of time such as the number of cycles per second (Hertz or Hz). For example, essential tremor is typically 4 to 12 Hz.

Friedreich’s ataxia: Friedreich’s ataxia is the most common autosomal recessively inherited type of ataxia. Like the autosomal dominant spinocerebellar ataxias, the main symptoms are loss of coordination and unsteadiness of gait. Other systems may also be affected and people with Friedreich’s ataxia should be monitored for heart disease and diabetes. The affected protein is called frataxin, and is thought to be involved in iron metabolism.

Froment’s sign: Increased resistance to passive movements of a limb that may be detected upon voluntary activity of another body part.

Functional Magnetic Resonance Imaging (fMRI): A noninvasive, diagnostic scanning procedure that produces detailed, computerized images. The use of a “contrast agent” or dye enhances the detail of the images. Sequencing of these images may help physicians visualize the body’s functioning, thus aiding differential diagnosis.

– return to top of page –


Gait: The style or manner of walking. Gait disturbances may be associated with certain neurologic or neuromuscular disorders, orthopedic conditions, inflammatory conditions of the joints (i.e., arthritic changes), or other abnormalities.

Gait apraxia: Loss of the ability to consciously sequence and execute the movements required to coordinate walking. Gait apraxia may result in unsteady walking patterns; “toe-walking”; a widely based, jerky gait; and balance difficulties.

Gamma knife radiosurgery: a highly specialized technique using a device that produces ionizing radiation to produce a lesion in the target tissue. This device focuses a beam of high intensity irradiation to a targeted area and is used as localized therapy to treat individuals with certain brain diseases (e.g., brain tumors, certain movement disorders, etc.).

Gamma-aminobutyric acid (GABA): An amino acid neurotransmitter that inhibits or decreases the electrical activities of nerve cells. GABA is the primary inhibitory neurotransmitter in the brain.

Gastroesophageal reflux: Backflow of stomach contents into the esophagus. This condition may be chronic and cause weakness of the lower esophageal sphincter, the ring-shaped muscle located at the junction of the esophagus and stomach.

Gastrostomy tube: A plastic tube inserted into the stomach through a surgical incision in the abdomen. A gastrostomy tube is used to deliver liquified food to the digestive system when swallowing becomes dangerous or difficult.

Gene: Genes are the smallest units of heredity. The information from all the genes, taken together, makes up the blueprint or plan for the human body and its functions. A gene is a short segment of DNA, which is interpreted by the body as a plan or template for building a specific protein.

Genetic anticipation: A phenomenon in which the onset of symptoms of a hereditary disease appears to occur at a progressively earlier age in successive generations. Genetic anticipation has been demonstrated in a number of hereditary disorders (such as Huntington’s disease, dentatorubropallidoluysian atrophy, etc.) in which the gene mutation consists of abnormally long sequences or “repeats” of particular coded instructions (e.g., unstable expansion of CAG repeats). With other disorders in which genetic anticipation has previously been suggested (e.g., essential tremor), studies have indicated that increased awareness of the condition in affected families may be responsible for earlier recognition of symptom onset.

Germline mosaicism: The presence of a gene mutation for a disease trait in some yet not all of an individual’s sexual reproductive cells (germ cells) within the ovaries or testes (gonads). Germline mosaicism is sometimes suspected when parents have more than one child with a genetic disorder transmitted as a dominant trait yet neither parent appears to be affected by the condition.

Gliosis: A proliferation of astrocytes in damaged areas of the central nervous system (CNS). Astrocytes are relatively large glial cells, which are the connective tissue cells of the CNS. Astrocytes have various functions, including accumulating in areas where nerve cells (neurons) have been damaged. Gliosis and neuronal loss in certain brain regions are findings seen in various neurodegenerative disorders.

Globus pallidus: A major substructure of the basal ganglia deep within the brain. Specialized groups of nerve cells in the globus pallidus function as an “intermediate relay system.” This system processes and transmits information from the basal ganglia by way of the thalamus to areas of the brain that regulate complex motor functions (e.g., motor cortex, premotor area of frontal lobe).

Glottis: The slit-like opening between the vocal cords; the region of the voice box (larynx) consisting of the vocal cords and the opening between them.

Glutamate: An amino acid that is a primary excitatory neurotransmitter in the central nervous system. This chemical agent plays an essential role in initiating and transmitting nerve impulses, crossing synapses to stimulate postsynaptic neurons.

Gram staining: Gram staining is a method used to classify bacteria. In the first step of the process bacteria are stained with gentian violet and then treated with Gram solution (named after Dr. Gram, the inventor of the technique). After the bacteria have been decolorized with alcohol and treated with safranine, a red organic dye, and washed in water, those bacteria that keep the gentian violet are gram-positive and those that do not are gram-negative.

Gray matter: Nerve tissue that primarily consists of nerve cell bodies, dendrites, and unmyelinated axons, thus having a gray appearance. In contrast, white matter predominantly contains myelinated nerve fibers.

– return to top of page –


Half life: The half life of a drug is the time it takes for the blood level to decrease by half after a drug is stopped.

Hallervorden-Spatz disease: A slowly progressive hereditary disorder characterized by abnormal accumulations of iron pigments in certain regions of the basal ganglia (e.g., globus pallidus and substantia nigra). This autosomal recessive disorder typically becomes apparent during late childhood or adolescence. Associated symptoms may include progressive stiffness and resistance to movement (rigidity); increasing difficulties speaking and eating; sustained muscle contractions that result in repetitive twisting motions or unusual postures or positions (dystonia); the presence of multiple, irregular, jerky motions that may combine to appear flowing or writhing in nature (choreoathetosis); and/or other abnormalities.

Hallucinations: Perceptions that occur in the absence of external stimuli and while an individual is awake. Hallucinations may involve any of the senses, including hearing (auditory hallucinations), vision (visual hallucinations), smell (olfactory hallucinations), taste (gustatory hallucinations), and touch (tactile hallucinations). Hallucinations may occur with high-dose administration of certain medications or the abuse of particular drugs (hallucinogens) that cause increased stimulation or excitation of the central nervous system. They may also be caused by chronic alcohol abuse; sensory deprivation; certain types of seizures due to impairment or damage of a limited area of the brain (e.g., temporal lobe epilepsy); psychotic illnesses characterized by disturbances in thought, behavior, and emotional reactions (schizophrenia); or certain organic disorders, such as Huntington’s disease.

Hashimoto’s Thyroiditis: Auto-immune disorder that is characterized by anti-body formation to thyroid tissue. Most commonly, anti-body production is toward the thyroid peroxidase antigen (TPA) and to a lesser degree, against Thyroglobulin. Commonly, TSH levels, T-3 and T-4 levels are measured to be ‘normal,’ but the patient suffers from the symptoms of hypothyroidism. Often associated with adrenal fatigue/failure, patients with Hashimoto’s Thyroiditis develop the clinical picture that may be labeled as “Chronic Fatigue Syndrome (CFS)” and Fibromyalgia (FMS). Treatment is best accomplished with treatment consisting of T-3 and T-4, combined, with adrenal replacement of DHEA, Pregnenolone, Cortisol, guided with sequential blood analysis and clinical monitoring.

Heat pain: Heat pain arises from warm or hot temperatures.

Hemichorea: Irregular, abrupt, relatively rapid involuntary (i.e., choreic) movements that are unilateral or involve muscle groups on one side of the body.

Hemidystonia: Hemidystonia is a form of dystonia that affects one side of the body or is characterized by unilateral involvement of the upper and lower limbs.

Hemizygote: Refers to a cell, organism, or individual with only one of a pair of genes for a specific trait. This term is often used to describe males who inherit one copy of an X-linked disease trait. It may also refer to the state in which genetic material is deleted from one member of a chromosomal pair.

Hereditary: Inherited; inborn; referring to the genetic transmission of a trait, condition, or disorder from parent to offspring. This is very different from “famililal,” which may infer a genetic condition, but it can also infer a shared-environmental factor or influence.

Heredodegenerative: Pertaining to genetically transmitted (hereditary) neurologic disorders characterized by progressive neuronal loss and other neurodegenerative changes (e.g., associated gliosis). For example, the term “heredodegenerative dystonias” is used to refer to several, usually hereditary disorders in which neurodegenerative changes may lead to dystonia as a primary feature and other neurologic symptoms are typically present. However, in some patients with such disorders, dystonia may not always develop and other neurologic features may be primary findings. Disorders that have been categorized as heredodegenerative dystonias include ataxia-telangiectasia, Hallervorden-Spatz disease, Huntington’s disease, Parkinson’s disease, progressive supranuclear palsy, neuroacanthocytosis, and Wilson’s disease.

Hertz (Hz): cycles per second.

Heterogeneity: comprising unrelated or differing parts or elements.

Heterozygous carriers: The term “heterozygosity” refers to the state of having different genes that occupy the same position (locus) on one or more paired chromosomes. “Heterozygous carriers” describes individuals who carry a single copy of a mutated gene for a disease trait, such as females who have a copy of a disease gene for an X-linked disorder. Because females have two X chromosomes yet only one functioning copy is necessary, a percentage of X chromosomes with the mutated gene may not be expressed, typically in a random pattern (known as “random X chromosome inactivation”). Therefore, females who are heterozygous for an X-linked disease trait often have no disease manifestations or less severe symptoms than affected males. However, because males have one X chromosome from the mother and one Y chromosome from the father, males who carry an X-linked disease trait will typically fully express the mutated gene. Rarely, females who are heterozygous for an X-linked disease trait may manifest symptoms with about the same severity as affected males.

Hoehn and Yahr Scale: The Hoehn and Yahr Scale is a commonly used physician-administered rating of the global severity of the motor symptoms of Parkinson’s disease. Scores range from 0, no signs of disease, to 5, wheelchair bound or bedridden without assistance.

Homeopathy: Homeopathy is a system of medicine that is based on the Law of Similars, a belief in which substances that cause healthy people to exhibit symptoms can, conversely, be used to restore the body to health.

Homeostasis: Homeostasis exists when an organism’s internal state of being is in balance even when the external environment is changing.

Homocystinuria: A metabolic abnormality characterized by excessive amounts of the amino acid homocystine in the urine. Homocystinuria, which may be transmitted as an autosomal recessive trait, may result from deficient activity of certain enzymes involved in the metabolic conversion of the amino acid methionine to cysteine. Associated symptoms and findings often include developmental delay; dislocated lens of the eyes (ectopia lentis); thin, weak muscles; progressive mental retardation; psychiatric abnormalities; skeletal defects; blockage of a blood vessel by a piece of a blood clot (thrombus) carried in the bloodstream (thromboembolism); and/or other abnormalities.

Huntington’s disease (HD): A hereditary, progressive, neurodegenerative disorder primarily characterized by the development of emotional, behavioral, and psychiatric abnormalities; gradual deterioration of thought processing and acquired intellectual abilities (dementia); and movement abnormalities, including involuntary, rapid, irregular jerky movements (chorea) of the face, arms, legs, or trunk. HD may be inherited as an autosomal dominant trait or, less commonly, appear to occur randomly for unknown reasons (sporadically). The disorder results from abnormally long sequences or “repeats” of certain coded instructions (i.e., unstable expanded CAG repeats) within a gene (located on chromosome p16.3). Progressive nervous system dysfunction associated with HD results from loss of neurons in certain areas of the brain, including the basal ganglia and cerebral cortex.

Huntington’s Disease-like 2 (HDL2): This rare disease strongly resembles Huntington’s disease in its inheritance and symptoms, which include abnormal movements, personality changes, and changes in the ability to think and process information. HDL2 is due to damage to the same parts of the brain as in HD; however, it is caused by mutation of a different gene, and also has an increased number of repeats. To date, almost all affected families have been of African ancestry. The other “Huntington’s disease-like” disorders (types 1, 3, and 4) are even rarer and have only been reported in one family each.

Hyperglycemia: An abnormally high level of the simple sugar glucose in the blood.

Hyperkalemic: Pertaining to hyperkalemia, a condition characterized by unusually high concentrations of potassium in the blood. Potassium, a positively charged ion, helps to regulate water balance, nerve conduction, and muscle contraction. Hyperkalemia may lead to various signs and symptoms, such as diarrhea, nausea, abdominal cramps, weakness, and, with increasing severity, abnormal heart rhythms and muscle paralysis.

Hyperkinetic: Characterized by excessive movement because of abnormally increased motor activity or function. Certain movement disorders are termed “hyperkinetic” such as tics or essential tremor.

Hypertension: Hypertension, also referred to as high blood pressure, is an abnormal increase in the pressure of blood against the walls of the arteries. Hypertension may be essential, meaning that it has no known cause, or may be related to another disease such as kidney disease or diabetes.

Hyperthyroidism: a condition caused by the effects of too much thyroid hormone on tissues of the body.

Hyperventilation: Abnormally rapid breathing usually accompanied by air swallowing. Hyperventilation results in excessive intake of oxygen and increased elimination of carbon dioxide, which may eventually lead to a disturbance in the body’s acid-base balance.

Hypokalemic: Referring to hypokalemia, which is characterized by abnormally low potassium levels in the blood. Potassium, the primary positively charged ion (cation) of muscle, plays an important role in regulating muscle contraction, nerve conduction, and other bodily functions. Hypokalemia may result in confusion, fatigue, weakness, and, in severe cases, paralysis and heart rhythm abnormalities.

Hypokinetic: Diminished movement and decreased motor function. Some movement disorders are hypokinetic, such as Parkinson’s disease.

Hypoparathyroidism: An endocrine condition characterized by insufficient secretion of parathyroid hormone due to injury, disease, or congenital

abnormalities of the parathyroid glands. Parathyroid hormone plays an essential role in regulating calcium balance in the body. Hypoparathyroidism results in low calcium blood levels (hypocalcemia), leading to various symptoms and findings. For example, hypoparathyroidism may cause a condition known as tetany in which increased excitability of nerves and muscles results in uncontrollable, painful muscle spasms and cramping; abnormal involuntary movements resembling chorea; spasmodic closure of the larynx (laryngospasm); and other findings. Hypoparathyroidism may also lead to seizures; abnormal calcium deposits (calcifications) in the basal ganglia; loss of transparency of the lenses of the eyes (cataracts); dry, scaly skin; weakened tooth enamel; and/or other abnormalities.

Hypoxia: abnormally low levels of oxygen.

Iatrogenic: a disease or disorder that is induced inadvertently by a physician or surgeon or by medical treatment or diagnostic procedures.

– return to top of page –


Idiopathic: A disorder or condition of spontaneous origin; self-originated or of unknown cause. The term is derived from the prefix “idio-” meaning one’s own and “pathos” indicating disease.

Idiopathic epilepsy: Recurrent seizures of unknown origin or cause; repeated episodes of uncontrolled electrical activity in the brain that occur in the absence of detectable brain lesions. Also known as essential or primary epilepsy, these conditions are often thought to have a genetic component. This may suggest that affected individuals have an inherited predisposition for recurrent seizures.

Immunofluorescence: This technique uses antibodies linked to a light-emitting or fluorescent dye in order to study foreign substances in a tissue sample.

Immunogenicity: The ability to or the degree to which a particular substance may provoke an immune response; having the properties of an antigen or any substance that may trigger a particular immune reaction, such as the production of antibodies.

Implantable Pulse Generator (IPG): A device that is placed under the skin near the collarbone as part of a surgical procedure known as deep brain stimulation. Wire leads from electrodes implanted in the brain are connected to the pulse generator, which then delivers continuous high frequency electrical stimulation to the thalamus via the implanted electrodes. This form of stimulation probably “jams” the nucleus and therefore modifies the message in the movement control centers of the brain, serving to suppress tremor.

Inhibition: The restraint, suppression, or arrest of a process or the action of a particular cell or organ; the prevention or slowing of the rate of a chemical or an organic reaction. The term “reciprocal inhibition” refers to the restraint or “checking” of one group of muscles upon stimulation (excitation) and contraction of their opposing (antagonist) muscles.

Inhibitor: A substance that blocks, restricts, or interferes with a particular chemical reaction or other biologic activity.

Innervate: To supply a body part, tissue, or organ with nerves or nervous stimulation.

Insidious: Of subtle, gradual, or imperceptible development; referring to the development of symptoms that may not be recognized by an affected individual until the disorder in question is established.

Intravenous: Within a vein or veins, as in introducing certain substances, such as fluids, nutrients, or medications, directly into a vein.

Ion: An electrically charged atom or group of atoms due to the loss or gain of one or more electrons. Positively charged ions, known as cations, include potassium, calcium, sodium, hydrogen, ammonium, and magnesium. Negatively charged ions, called anions, include chloride, phosphate, and bicarbonate. The transfer of ions across cellular membranes plays an essential role in vital bodily processes, including enzyme activation, protein metabolism, acid-base balance, nerve impulse transmission, and muscle contraction.

Ischemia: Ischemia occurs when the flow of oxygen-rich blood to tissue in the body is reduced or stopped.

Isoleucine: an essential amino acid.

Jejunostomy tube: The jejunostomy tube is similar to a gastrostomy tube, although this tube is longer and is inserted through the abdominal wall into the jejunum, the middle section of the small intestine.

– return to top of page –


Joint contractures: Permanent flexing or extension of joints in fixed postures due to shortening of muscle fibers. Contractures, abnormal fixation of the limbs, and associated deformity may result from prolonged immobility of developing joints.

Juvenile myoclonic epilepsy: A form of idiopathic epilepsy or recurrent seizures of unknown origin, with symptom onset typically occurring from approximately 12 to 16 years of age. The condition is characterized by sudden, involuntary, “shock-like” muscle jerks (myoclonus) that primarily occur during the morning or with stress, fatigue, or alcohol consumption. Patients may later develop generalized tonic-clonic seizures associated with loss of consciousness and rhythmic contraction and relaxation of all muscle groups.

– return to top of page –


Kinesigenic: Caused by sudden voluntary movement; movement induced. More specifically, this term is often used to describe abrupt episodes of involuntary movement that are provoked by sudden motions or unexpected stimuli.

– return to top of page –


Lafora’s disease: A progressive myoclonic encephalopathy (PME) that is inherited as an autosomal recessive trait. Associated symptoms typically begin in childhood or early adolescence and include frequent seizures characterized by loss of consciousness and rhythmic contraction and relaxation of all muscle groups (generalized tonic-clonic seizures); sudden, involuntary, “shock-like” muscle jerks (myoclonus); and rapidly progressive deterioration of thought processing and acquired intellectual abilities (dementia). Removal and microscopic examination of minute tissue samples (e.g., muscle fibers, liver cells, etc.) reveal abnormal, characteristic deposits of complex proteins and carbohydrates within the fluid portion of cells (intracytoplasmic inclusions known as “Lafora bodies”).

Lance-Adams syndrome: Also known as “posthypoxic” or “postanoxic action myoclonus,” this condition is characterized by the development of chronic action myoclonus due to a temporary lack or inadequate supply of oxygen to the brain (cerebral hypoxia or anoxia). Patients with action myoclonus experience sudden, involuntary, “shock-like” muscle contractions that may be triggered or aggravated by voluntary movement. Lance-Adams syndrome is also often associated with cerebellar ataxia or lack of coordination, postural imbalance, and other associated findings.

Lateral: Sideways; of, on, from, or toward the side.

Leigh disease: A disorder of mitochondrial function that typically becomes apparent during infancy. Also known as subacute necrotizing encephalomyelopathy, the disorder may be characterized by feeding and swallowing difficulties, vomiting, muscle weakness, low muscle tone (hypotonia), and delayed acquisition of motor and language skills. Affected infants and children may also develop seizures; an impaired ability to coordinate voluntary movements (ataxia); involuntary, rapid, rhythmic eye movements (nystagmus); tremor; dystonia; and/or other abnormalities. The disorder, which has a number of underlying causes, may occur randomly for unknown reasons (sporadically) or be transmitted as an autosomal recessive or X-linked trait. Leigh disease is associated with characteristic changes of the central nervous system (CNS), including symmetric regions of localized tissue loss (necrosis) and neurodegenerative changes of the basal ganglia, thalamus, brainstem, spinal cord, and other regions of the CNS.

Leucine: an essential amino acid.

Lewy body: A Lewy body is a mass of protein found in dying nerve cells in the brain.

Lewy Body Disease: Also called diffuse Lewy body disease, Lewy body dementia. Lewy body disease is a common cause of dementia, accounting for approximately 15%-20% of all cases. The age of onset is typically in the late 50s through the 70s. It is more common in men than women. Lewy Body Disease is characterized by more daily fluctuations in symptoms than Alzheimer’s disease, as well as more prominent psychosis. Patients are prone to have adverse reactions to antipsychotics. Patients also have parkinsonian features early in the disease, including slowed movements and rigidity, though usually without tremor. The Lewy body is a protein aggregate found in dying neurons in the brain. In Lewy body disease, the Lewy bodies are most prominently found in the cortex, or surface of the brain, versus in the midbrain for Parkinson’s disease.

Lipopolysaccharide: A lipopolysaccharide is a molecule made up of a lipid (a fat) with a polysaccharide (a complex sugar). In most circumstances, the terms lipopolysaccharide and endotoxin can be used interchangeably.

Lumbar puncture: A procedure during which a sample of fluid (i.e., cerebrospinal fluid [CSF]) is removed from the spinal canal for diagnostic or therapeutic purposes. During the procedure, CSF is obtained via a hollow needle inserted between two bones of the spinal column within the lower back (i.e., usually the third and fourth lumbar vertebrae). Laboratory analysis conducted on CSF may help to diagnose central nervous system infections, certain tumors, or particular neurologic disorders. In some cases, lumbar puncture may also be performed to inject certain medications into the CSF, such as particular anticancer (chemotherapeutic) agents.

Lysosomal: Referring to lysosomes, which are membrane-bound bodies (organelles) outside the nuclei of cells that contain various enzymes engaged in intracellular digestion.

Lysosomal storage diseases: Inborn errors of metabolism in which deficiency or impaired functioning of particular lysosomal enzymes leads to an abnormal accumulation of certain substances (e.g., fats, complex carbohydrates) within particular cells, progressively affecting multiple bodily tissues and organs. (Lysosomes are membrane-bound, enzyme-containing bodies within cells that engage in digestive processes; enzymes are proteins that accelerate the rate of certain chemical reactions in the body.) Most lysosomal storage disorders (e.g., mucolipidoses, mucopolysaccharidoses, lipidoses, etc.) are thought to be inherited as autosomal recessive traits.

– return to top of page –


Machado-Joseph disease: Machado-Joseph disease, also known as spinocerebellar ataxia (SCA) type III, is probably the most common autosomal dominant SCA. This disorder was previously known as Azorean disease, as a large number of Portuguese families from the Azores Islands were found to be affected; however, SCA type III has now been reported in many other ethnic groups. In addition to unsteadiness of gait (ataxia), symptoms may involve parkinsonism, dystonia, and chorea. The affected protein is called ataxin-3; however, its function is not yet known.

Magnetic resonance imaging (MRI): A diagnostic scanning technique during which radio waves and an electromagnetic field are used to help create detailed, cross-sectional images of specific organs and tissues. MRI is often considered a particularly valuable imaging technique for studies of the brain and spinal cord because of the MRI’s ability to scan images from various angles and provide strong contrast between healthy and abnormal tissues.

MAO-B inhibitors: Inhibitors of the enzyme monoamine oxidase B. MAO-B helps break down dopamine; inhibiting it prolongs the action of dopamine in the brain.

Mean: An average; intermediate or middle position in value, quantity, or degree. The “arithmetic mean” is a statistical measure derived by adding a set of values and dividing the total by the number of values.

Mechanical pain: Mechanical pain arises from pressure or touch.

Medially: Toward the middle; closer to or oriented toward the midline or median plane of a body or structure. The “median plane” refers to the imaginary plane that divides a body into symmetrical parts.

Membrane lipid peroxidation: the oxidative deterioration of polyunsaturated fatty acids in which polyunsaturated fatty acids are converted to lipid hydroperoxides.

Meningitis: Meningitis is an infection of the meninges, the thin three-layer membranes that cover and protect the brain and spinal cord.

MERFF syndrome (myoclonus epilepsy with ragged-red fibers): A rare hereditary disorder characterized by neurologic and muscle abnormalities due to defects of genetic material (DNA) in mitochondria, the rod-like structures outside the nuclei of cells that serve as a primary source of cellular energy. Removal and microscopic examination of minute samples of muscle fibers reveal structurally abnormal mitochondria (a finding known as “ragged-red fibers”). Associated symptoms include muscle weakness; sudden, involuntary, “shock-like” muscle contractions induced by voluntary movements or in response to external stimuli (action or reflex myoclonus); repeated seizures (epilepsy); progressively impaired coordination of voluntary movements (ataxia); and/or gradual deterioration of intellectual functioning (dementia). Some affected individuals may also have additional abnormalities, such as hearing loss; degeneration of the nerves (i.e., optic nerves) that convey impulses from the retinas to the brain (optic atrophy); short stature; heart muscle disease (cardiomyopathy); or other findings.

Metabolism: Refers to the ongoing chemical processes of cells of the body, including catabolism and anabolism. Catabolism or so-called “destructive metabolism” is the breakdown of complex chemical compounds into simpler substances, typically liberating or releasing energy. In contrast, anabolism or “constructive metabolism” refers to the “building up” or conversion of simple substances into more complex chemical compounds, requiring energy consumption (provided by catabolic processes).

Mini-Mental State Examination: This short clinician-administered test measures cognitive status (the ability to think, calculate, and reason) in adults. This test is used to measure the presence of impaired cognition or a change in cognition over time.

Mitochondrial: Referring to mitochondria or rod-like structures inside cells of the body whose primary functions include the production and regulation of energy.

Monoamine: A molecule containing one amine group. An amine is an organic compound containing nitrogen. The so-called “biogenic monoamines” are natural, biologically active compounds that often function as neurotransmitters, including dopamine, serotonin, noradrenaline, and epinephrine.

Monotherapy: A drug used alone to treat a disease (opposite of combination therapy).

Motor fluctuations: Motor fluctuations occur when levodopa is used to treat Parkinson’s disease. As the disease becomes worse, the number of cells in the brain that store dopamine decreases, the symptoms of Parkinson’s disease worsen, and levodopa is not as effective in controlling the symptoms. When this happens, a person is said to have “off” episodes.

Multiple sclerosis (MS): A progressive disease of the central nervous system characterized by destruction of myelin (demyelination), the fatty substance that forms a protective sheath around certain long nerve fibers (axons). Myelin serves as an electrical insulator, enabling the effective transmission of nerve signals. Patients with MS may develop paresthesias, such as numbness or tingling; muscle weakness and stiffness; impaired coordination; abnormal reflexes; an inability to control urination (urinary incontinence); slurred speech; visual disturbances; and/or other symptoms and findings.

Multiple System Atrophy: A neurodegenerative disorder characterized by parkinsonism, ataxia, and dysfunction of the autonomic nervous system.

Muscle tone: The low level of contraction in a muscle not being intentionally contracted.

Mutated: Altered; a mutation is a change in a gene.

Mutation: A change in a gene, such as loss, gain, or substitution of genetic material, that alters its function or expression. This change is passed along with subsequent divisions of the affected cell. Gene mutations may occur randomly for unknown reasons or may be inherited.

Myelin: The whitish, fatty substance forming the segmented, multilayered wrappings or “sheaths” around certain long nerve fibers or axons. Myelin sheaths electrically insulate axons, serving to speed the transmission of nerve signals (action potentials).

Myelinated: Referring to long nerve fibers (axons) that have myelin sheaths. Consisting of segmented, multilayered wrappings of myelin, a whitish protein, myelin sheaths wrap around certain nerve fibers, providing electrical insulation and serving to speed the transmission of nerve signals.

Myoclonic: Pertaining to myoclonus or irregular, involuntary, shock-like contractions or spasms of a muscle or muscle group.

Myoclonus: A neurologic movement disorder characterized by brief, involuntary, twitching or “shock-like” contractions of a muscle or muscle group. These jerk-like movements may be accompanied by periodic, unexpected interruptions in voluntary muscle contraction, leading to lapses of sustained posture (known as “negative myoclonus”). So-called “positive” and “negative” myoclonus are often seen in the same individuals and may affect the same muscle groups. Myoclonus is often a nonspecific finding, meaning that it may occur in the setting of additional neurologic abnormalities and be associated with any number of underlying conditions or disorders. In other patients, myoclonus appears as an isolated or a primary finding. Depending on the underlying cause and other factors, the shock-like muscle jerks may occur repeatedly or infrequently; may tend to appear under specific circumstances (e.g., with voluntary movements or in response to specific external sensory stimuli); and may affect any body region or regions.

– return to top of page –


Nasoduodenal tube: A nasoduodenal tube is a flexible rubber tube that is inserted through the nose and into the duodenum (the section of the small intestine closest to the stomach) via the esophagus and stomach. It can be used to remove the contents of or decompress the small intestine or to provide nutrition support or medication.

National Institutes of Health (NIH): The NIH is one of the world’s foremost medical research centers and the federal focal point for medical research in the United States. The NIH, comprising 27 separate Institutes and Centers, is one of eight health agencies of the Public Health Service that, in turn, is part of the U.S. Department of Health and Human Services.

Necrosis: Cell death. Loss of cells, tissues, or parts of a structure or organ due to the progressively degrading actions of certain enzymes, such as the degradation of DNA within the nucleus of dying cells. Necrosis may result from a loss of blood supply (ischemia), infection, excessive exposure to ionizing radiation, certain chemicals, or extreme temperatures.

Neoplastic: Relating to the formation of a neoplasm (tumor) or a new, abnormal growth characterized by uncontrolled, progressive multiplication of cells. Neoplasms may be benign or malignant.

Nerve conduction velocity (NCV) test: A diagnostic study during which both sensory and motor nerves are repeatedly stimulated in order to measure the speed at which nerve impulses are conducted. Unusually slow conduction velocities suggest damage to nerve fibers (e.g., loss of the protective covering surrounding certain nerve fibers [demyelination] or other disease process).

Nervous system: The nervous system of the human body is divided into two interconnected systems: the central nervous system, which is made up of the brain and spinal cord, and the peripheral nervous system. The peripheral nervous system is further divided into the somatic nervous system (made up of peripheral nerve fibers that send sensory information to the central nervous system and motor nerve fibers that project to skeletal muscle) and the autonomic nervous system.

Neuroacanthocytosis: Also known as choreoacanthocytosis, this is a genetic disorder that most often becomes apparent between the ages of 25 to 45 years. The disorder is usually transmitted as an autosomal recessive trait. Associated symptoms may include generalized chorea; dystonia affecting muscles of the mouth and tongue; potentially mutilating lip- and tongue-biting; and sudden, involuntary, repetitive muscle movements (motor tics) and vocalizations (vocal tics). Patients may also develop personality changes and cognitive decline, seizures, parkinsonism, atrophy of muscle tissue (amyotrophy), and difficulties speaking and swallowing. Neuroimaging studies may reveal atrophy of certain regions of the basal ganglia (e.g., caudate nuclei and putamen [striatum]). The disorder may be confirmed by blood tests revealing the presence of abnormal circulating red blood cells that have spur-like or thorny projections (acanthocytosis).

Neurochemical: Referring to the chemistry or biochemical processes of the nervous system, such as activities involving naturally produced chemicals (i.e., neurotransmitters) that enable nerve cells (neurons) to communicate.

Neurodegenerative: Marked by or pertaining to neurologic degeneration; deterioration of the structure or function of tissue within the nervous system.

Neuroimaging: The production of detail, contrast, and clearness in images of the brain and spinal cord (central nervous system) through the use of computed tomography (CT) scanning, magnetic resonance imaging (MRI), positron emission tomography (PET) scanning, or other imaging techniques to assist in diagnosis, treatment decisions, or research.

Neuroleptic: a drug used to treat psychotic behavior.

Neuroleptic malignant syndrome: a life-threatening neurologic disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. Symptoms include high fever, sweating, unstable blood pressure, stupor, muscular rigidity, and autonomic dysfunction. In most cases, the disorder develops within the first 2 weeks of treatment with the drug; however, the disorder may develop any time during the therapy period. The syndrome can also occur in people taking anti-parkinsonism drugs known as dopaminergics if those drugs are discontinued abruptly.

Neuron: An individual nerve cell.

Neuronal: Pertaining to a neuron or neurons.

Neuroprotective effect: Having the ability to prevent or slow the death of neurons. The drug selegiline (Eldepryl®) may have a neuroprotective effect, possibly by preventing formation of free radicals.

Neuroreceptor: Specific sites on the surface of a nerve cell to which certain special substances (neurotransmitters) bind, initiating the conduction of impulses (or signals) to other nerve cells.

Neurotoxin: a substance that interferes with the electrical activity or functioning of nerve cells (neurons), preventing them from communicating with each other.

Neurotransmitter: A specialized substance (such as norepinephrine or acetylcholine) that transfers nerve impulses across spaces between nerve cells (synapses). Neurotransmitters are naturally produced chemicals by which nerve cells communicate.

Nigrostriatal system: Referring to the substantia nigra, the striatum, and the connection between them.

Nocardia asteroides: Nocardia asteroides are gram-positive bacteria that are found throughout the world in the soil. Localized infections usually occur in the skin following contamination of a scrape or scratch, and disseminated infections typically occur when a person with a compromised immune system inhales the bacteria. The primary site of disseminated infection is typically the lungs, where abscesses form, but the infection may spread to other parts of the body, including the brain, liver, and kidneys.

Nomenclature: System of names used in a particular scientific discipline to consistently and methodically designate certain classifications and avoid confusion or ambiguity.

Non-ergotoline medication: A dopamine agonist medication that has action similar to that of pergolide (Permax®) and bromocriptine (Parlodel®) but is not derived from an ergot. Examples of nonergotoline medications that are used to treat some neurologic movement disorders include pramipexole (Mirapex®) and ropinirole (Requip™.)

Non-kinesigenic: Not induced by movement; provoked by factors other than sudden motions. This term often refers to abrupt episodes of involuntary movement that occur spontaneously or may be worsened by fatigue, stress, alcohol or caffeine intake, heat or cold, fasting, or other factors.

Noradrenaline (norepinephrine): A vasoconstrictor whose release triggers action within the sympathetic nervous system, the part of the nervous system that regulates certain involuntary responses during times of stress. Noradrenaline serves as a neurotransmitter that stimulates receptors (alpha- and beta-adrenergic receptors) at effector organs supplied or innervated by certain sympathetic nerve fibers (postganglionic adrenergic fibers). In addition to its production by neurons, noradrenaline is also secreted by the inner region of the adrenal glands (adrenal medulla). The release of noradrenaline serves to deepen breathing, raise blood pressure, and increase the heart rate. It also plays a role in regulating mood.

NREM sleep: Non-REM (nonrapid eye movement) sleep, which is the normal period of dreamless, lighter sleep as compared to the deeper REM sleep. NREM sleep accounts for the major portion of sleep.

Nuclear envelope: The nuclear envelope is a membrane that surrounds the nucleus in eukaryotic cells, separating the DNA in the nucleus from the rest of the cell.

Nucleus: The nucleus is the part of the cell that contains the genetic material; it is surrounded by the nuclear envelope.

Obsessive-compulsive behaviors: The performance of certain repetitive actions or rituals in response to persistent thoughts or impulses. For example, obsessions may consist of repeated doubts, such as wondering whether the stove was left on; a need for routine; or impulses to perform certain inappropriate actions. Compulsions frequently include repeated checking and rechecking, such as ensuring that the stove is indeed off; touching particular objects in a specific pattern or sequence; repetitive hand washing; or other repetitious behavior performed in an attempt to prevent or relieve anxiety, distress, or a feeling of dread.

– return to top of page –


Obstructive sleep apnea: A sleep disorder characterized by episodes of temporary cessation of breathing due to obstruction of the airway.

Oculomotor: Relating to or causing movement of the eyes.

Off episodes: This term refers to the times when people with Parkinson’s disease have a decrease in the ability to move (hypomobility) and other symptoms that cause difficulty rising from a chair, speaking, walking, or performing their usual activities. Off episodes occur because the person’s dose of levodopa has worn off too soon or has suddenly and unexpectedly stopped providing benefit.

Off time: This term refers to the times when people with Parkinson’s disease have a decrease in the ability to move (hypomobility) and other symptoms that cause difficulty rising from a chair, speaking, walking, or performing their usual activities. Off episodes occur because the person’s dose of levodopa has worn off too soon or has suddenly and unexpectedly stopped providing benefit.

Olivopontocerebellar atrophy (OPCA): A group of rare hereditary disorders characterized by neurodegenerative changes of certain brain regions, including the cerebellum and specialized groups of nerve cells (nuclei) in the brainstem (e.g., olivary and pontine nuclei). With most forms of the disorder, initial symptoms become apparent from adolescence to mid-adulthood; however, a rare form has been identified that may be evident at birth. Depending upon the type of OPCA, symptoms may include progressively impaired coordination, postural instability, slurred speech (dysarthria), and other associated findings (i.e., cerebellar ataxia); parkinsonism; rapid, involuntary, rhythmic eye movements (nystagmus); and/or retinal degeneration. Some affected individuals may also have additional symptoms and findings, such as involuntary, rapid, jerky movements (chorea); relatively slow, writhing motions that appear to “flow” into one another (athetosis); increased muscle stiffness (rigidity) with associated twisting or distorted posturing of affected muscles (dystonia); and/or other abnormalities. Most forms of OPCA are inherited as autosomal dominant traits; however, autosomal recessive forms have also been identified.

Opiate: Any preparation or derivative of opium.

Opioids: Means “like or similar to opium” and refers to medications with opium-like effects. This term is used to describe any synthetic drug that possesses the characteristic properties of opiate narcotics but is not derived from opium.

Organic: (1) Referring to or arising from an organ or organs. (2) Regarding substances that arise or are derived from living organisms. (3) Pertaining to chemicals that contain carbon.

Orthostatic hypotension: A sudden decrease in blood pressure that occurs when the affected individual sits up or stands. In some cases, it may occur as a side effect of certain medications.

– return to top of page –


Palate: The bony and muscular structure that forms the roof of the mouth and separates the oral and nasal cavities.

Paranoia: Elaborate and overly suspicious thoughts and feelings of persecution.

Parasympathetic nervous system: Part of the nervous system that, together with the sympathetic nervous system, forms the autonomic nervous system (ANS). The ANS controls the functioning of involuntary structures, including the heart, glands, and smooth muscle. The parasympathetic nervous system regulates nerve transmissions to certain effector organs under normal conditions, as opposed to times of stress. It serves to “steady” involuntary activities and conserve or restore energy. Parasympathetic responses may include slowing of the heart and breathing rates, contraction of the pupils, an increase in glandular activity, and an acceleration in the rate of peristalsis.

Parathyroid glands: Two pairs of endocrine glands located in the neck at the back of the thyroid gland. The parathyroid glands produce parathyroid hormone, which increases blood calcium levels by causing bones to release calcium into the blood, the kidneys to conserve calcium, and the intestines to increase calcium absorption from food. When blood calcium levels are high, the parathyroid glands reduce their production of parathyroid hormone, essentially reversing the process.

Paresthesias: Abnormal sensations occurring spontaneously or in response to stimulation. Paresthesias may include prickling, tingling, burning, or tickling feelings; numbness; “pins and needles”; or cramp-like sensations. Various neurologic movement disorders may be characterized by paresthesias, including restless legs syndrome (RLS), paroxysmal kinesigenic dyskinesia (PKD), and paroxysmal non-kinesigenic dyskinesia (PNKD).

Parkinson’s disease (PD): A slowly progressive degenerative disorder of the central nervous system characterized by slowness or poverty of movement (bradykinesia), rigidity, postural instability, and tremor primarily while at rest. Additional characteristic findings include a shuffling, unbalanced manner of walking; forward bending or flexion of the trunk; a fixed or “mask-like” facial expression; weakness of the voice; abnormally small, cramped handwriting (micrographia); depression; or other symptoms and findings. Such abnormalities are thought to result from progressive loss of nerve cells within a certain region of the substantia nigra of the brain and the associated depletion of the neurotransmitter dopamine.

Parkinsonism: A constellation of the following symptoms: tremor, rigidity, bradykinesia (slow movements), and loss of postural reflexes. Although classically seen in Parkinson’s disease, parkinsonism may have other causes. In the elderly, parkinsonism may be caused by dopamine-blocking drugs, multiple system atrophy, striatonigral degeneration, Shy-Drager syndrome, cortico basal degeneration, diffuse Lewy body disease, and Alzheimer’s disease with parkinsonism. In younger people, parkinsonism may be caused by juvenile-onset dystonia/parkinsonism, Westphal variant of Huntington’s disease, Wilson’s disease, L-dopa-responsive dystonia, Hallervorden-Spatz disease, and progressive pallidal degeneration.

Paroxysmal: Pertaining to or occurring in paroxysms or sudden, recurrent episodes. The term paroxysms often describes transient episodes of abnormal involuntary movements (e.g., chorea, athetosis, dystonia, and/or ballismus) or ataxia, which is characterized by an impaired ability to coordinate voluntary movements.

Paroxysmal movement disorders: Certain neurologic movement disorders characterized by abrupt, transient episodes of abnormal involuntary movement, such as chorea, athetosis, dystonia, and/or ballismus (i.e., the paroxysmal dyskinesias) or impaired coordination of voluntary actions and other associated findings (i.e., paroxysmal ataxias). Depending upon the specific disorder present, episodes may be precipitated or worsened by different factors. As examples, in those with paroxysmal kinesigenic dyskinesia (PKD), episodes may be triggered by sudden voluntary movements. In non-kinesigenic dyskinesia (PNKD), episodes occur spontaneously and may be worsened by caffeine or alcohol consumption, stress, fatigue, or other factors. In patients with paroxysmal kinesigenic ataxias, episodes may be triggered by sudden voluntary movements or postural changes. These disorders may be familial, appear to occur randomly for unknown reasons (sporadically), or occur secondary to other underlying conditions or disorders (symptomatic).

Pathogenesis: the origination and development of a disease.

Pathophysiology: The effects of disease on body functions; the physiology of altered function seen in disease. (“Patho-” is a combining form denoting any disease state, and “physiology” refers to the study of the processes and functioning of the human body).

Penetrance: The regularity or frequency with which a specific gene yields its effect or “is expressed.” For example, if a specific gene produces a disease in all individuals who carry the gene, it is termed 100% penetrant. If a gene produces the disease less than 100% of the time, it is not fully penetrant.

Peptide: Peptides are short chains of amino acids.

Pericardium: The pericardium is the two-layered sac that surrounds and protect the heart. If the pericardium becomes fibrotic or filled with fluid, it limits the motion of the heart and, therefore, the ability of the heart to pump efficiently.

Periodic apnea: Episodes of the temporary cessation of spontaneous breathing. Periodic apnea may be characterized by absence of airflow, absence of chest wall movements, or airway obstruction that may result from poor control of tongue movements, impaired coordination of upper airway muscles, or other abnormalities.

Periodic limb movements in sleep (PLMS): Repeated stereotypic movements of the limbs (usually the legs) that occur during sleep. These movements typically consist of upward extension of the great toe and foot as well as flexion of the ankle, knee, or hip; they occur every 15 to 40 seconds and 0.5 to 6.0 seconds, usually during NREM sleep and have a duration of 0.5 to 6.0 seconds.

Peripheral edema: unusual fluid accumulation, resulting in swelling of the arms or legs.

Peripheral nervous system: The peripheral nervous system is that portion of the nervious system outside of the brain and spinal cord (central nervous system).

Peripheral neuropathy: Inflammation, degeneration, or damage of nerves of the peripheral nervous system (PNS). The PNS includes nerves that extend from the brain and spinal cord (central nervous system) to various parts of the body. Peripheral neuropathy may involve motor nerves, causing muscle weakness, and/or sensory nerves, resulting in pain, abnormal sensations, such as numbness or tingling, or other findings.

Peristalsis: Rhythmic, wave-like contractions of smooth or involuntary muscle fibers that propel food through the digestive tract.

Phenomenology: classification based on a scientific explanation.

Phenylalanine: an essential amino acid that is converted in the body to tyrosine.

Phenylketonuria: an inherited disorder that, if untreated, causes profound mental retardation as well as other medical problems.

Phonation: The production of speech; utterance of sounds through use of the vocal cords.

Physiatrist: a physician specializing in physical medicine and rehabilitation.

Physiologic tremor: A form of rapid tremor that may occasionally occur in any individual. Physiologic tremor is typically the result of fear, anxiety, or excitement. Physiologic tremor may affect the arms, legs, and, in some patients, the face or neck.

Pittsburgh Sleep Quality Index: This 24-item self-administered questionnaire is designed to provide a brief clinically useful assessment of a variety of sleep disturbances that might affect sleep quality.

Placebo: A placebo is a substance that appears to be identical to the treatment under study but that has no effects on the test subject. The placebo is given to members of the control group during experimental trials that test the effects of a drug or other substance.

Placebo-controlled trial: A placebo-controlled trial is a clinical experiment in which patients have been randomly assigned to receive either the treatment under study or placebo, an alternative that has no effects.

Pleura: The pleura are the two-layer membranes that cover the outside of the lungs and line the chest cavity.

Polymerase chain reaction (PCR): A highly sophisticated technique during which a known sequence of DNA is copied rapidly over a short period, such as millions of copies over a few hours. PCR testing assists in diagnosing certain genetic disorders, helps identify individuals through analysis of a single cell or so-called “DNA fingerprinting,” or characterizes certain strains of infectious microorganisms.

Positron emission tomography (PET): An advanced, computerized imaging technique that uses radioactively-labels substances (e.g., glucose) to demonstrate chemical and metabolic activities in the brain as well as track other brain functions. Brain structures are also visualized on PET scans.

Positron emission tomography (PET) scanning: A noninvasive, diagnostic procedure used to record the uptake and distribution of certain substances in the tissues and organs of the body. Thus, PET assists in evaluating various metabolic and physiological activities in the body. During this procedure, three-dimensional, color-coded images are created based upon the detection of positively charged particles (positrons). The positrons are produced by certain biochemicals (e.g., glucose) carrying radioactive substances that have been introduced into the body (via intravenous injection). PET scanning may help to detect abnormal biochemical patterns associated with certain neurologic conditions, such as Parkinson’s disease, brain tumors, seizure disorders, and psychiatric abnormalities.

Postural instability: unsteadiness of gait or standing.

Postural tremor: Any tremor that is present while an individual voluntarily maintains a position against gravity, such as holding the arms outstretched.

Precursor: Literally a “forerunner,” such as a substance that precedes another in a biochemical reaction.

Prenatally: Before birth.

Probe: A genetic probe is a single strand of DNA or RNA with a specific base sequence used to detect the corresponding base sequence by hybridization—which is the process of joining two complementary strands of DNA or one each of DNA and RNA to form a double-stranded molecule. The single strand is either radioactively or immunologically labeled.

Progressive supranuclear palsy (PSP): A progressive neurological disorder characterized by neurodegenerative changes of certain brain regions, including particular areas of the basal ganglia and the brainstem. Symptom onset most often occurs in the sixth decade of life. Associated findings may include balance difficulties, sudden falls, stiffness (rigidity), slowness of movement (bradykinesia), an impaired ability to perform certain voluntary eye movements, and visual disturbances. Affected individuals may also develop slurred speech; swallowing difficulties; personality changes; dystonia; sudden, involuntary, “shock-like” muscle contractions (myoclonus); or other abnormalities. The disorder usually appears to occur randomly for unknown reasons (sporadically); however, there are some reports of families with multiple affected members, suggesting a possible hereditary component to the disease.

Prophylactic: Referring to preventive treatment (i.e., prophylaxis); a medication, procedure, or device that serves as a preventive against disease.

Prophylaxis: Protection from or the prevention of disease; preventive (i.e., prophylactic) therapy; often refers to the use of a drug, mechanical agent, or procedure to prevent infection with certain microorganisms (e.g. bacteria).

Proteasome inhibitor: A proteasome inhibitor is a chemical that interferes with, or inhibits, the action of proteasomes—the recyclers of proteins in the cells.

Protein: Proteins are large complex molecules made up of amino acids. Each protein starts out as a chain of amino acids. Determined by the sequence of the base pairs in the gene that encodes it, the protein then folds itself into its unique shape. Proteins serve many different roles within the body, including providing structure (collagen), allowing movement (actin and myosin), increasing the rate of a chemical reaction (enzymes), transporting substances (hemoglobin); regulating processes within the cells (insulin); and responding to the stimuli (receptor proteins on surface of all cells).

Psychogenic: Of mental or emotional origin; referring to a symptom, condition, or disorder that is caused by mental, psychological, or emotional factors rather than physical illness.

Psychosis: Refers to any mental disorder characterized by severe distortion of thinking, comprehension, and judgment (i.e., mental capacity); impaired contact with reality; and abnormal emotional responses and disorganized behaviors. Symptoms may include false beliefs despite evidence to the contrary (delusions), such as fears of persecution; the perception of sounds, sights, or other sensations in the absence of external stimuli (hallucinations); apparent lack of emotion (affect); abnormal thought patterns; disorganized, incoherent speech; and/or agitated, aggressive behaviors. Psychosis may be of physical (i.e., organic) origin, such as due to brain damage, neurological diseases, underlying metabolic disorders, etc., or “functional,” meaning that it is produced or caused by factors other than organic disease.

– return to top of page –


– return to top of page –


Pulmonary: Referring to the lungs. Pulmonary fibrosis: Pulmonary fibrosis is a condition in which excessive scar tissue forms in the lungs, making them stiff, decreasing the amount of surface area that is available to provide gas exchange, and interfering with their function. Putamen: One of the 3 major brain regions that, together with the caudate nuclei and the globus pallidus, comprise the basal ganglia. Relatively similar in function and structure, the putamen and the caudate nuclei are collectively referred to as the striatum. Specialized groups of nerve cells within the putamen receive input from various regions of the cerebral cortex. The messages are processed and relayed by way of the thalamus to the motor cortex, influencing voluntary movement.

Range of motion (ROM): The extent of a joint’s free movement. The normal ROM of the elbow, for instance, carries the forearm through a half-circle. Passive ROM is tested while the limb is relaxed. Active ROM is movement controlled by the patient.

Receptor: A molecule on a neuron that receives a neurotransmitter. Reception of the neurotransmitter causes changes in the neuron which increase or decrease its likelihood of “firing,” or sending its own signal to other neurons. Dopamine receptors are located on corpus striatum neurons, and on nigral cells.

Reduced penetrance: Reduced expression of a genetic disorder. The term penetrance refers to the frequency with which a specific genetic mutation produces its typical effect in those with the genetic abnormality. For example, if fewer than 100 percent of individuals who inherit a gene mutation for an autosomal dominant disorder develop the disease, the specific trait is said to have “reduced penetrance.”

Reflex: Involuntary, predictable response to a particular stimulus.

Refractory: Resistant to or not readily yielding to treatment.

Regurgitation: In reference to the heart, regurgitation is the backward flow of blood through a defective valve.

REM sleep: The period of sleep that is associated with dreaming, rapid eye movements (REM), and certain involuntary muscle movements.

Restless legs syndrome (RLS): A neurologic movement disorder characterized by unusual, uncomfortable sensations (paresthesias/dysesthesias) deep within the calves and/or thighs, resulting in an irresistible urge to move the legs, and motor restlessness in response to or in an effort to alleviate discomfort. In some patients, the arms may also be affected. Symptoms become obvious or worse during periods of relaxation or inactivity; occur most frequently during the evening or the early part of the night; and may be temporarily relieved by voluntary movements of the affected area. Most patients experience associated sleep disturbances, including difficulties drifting off to and remaining asleep. RLS is also often associated with periodic limb movements of sleep (PLMS) or repeated, stereotypic, upward extension of the great toe and foot, potentially followed by flexion of the knee, hip, or ankle. Episodes of PLMS typically occur during periods of lighter (i.e., non-REM) sleep.

Restorative sleep: A refreshing sleep, i.e., receiving a sufficient amount of rest to feel refreshed and to engage in the activities of daily living without experiencing excessive daytime sleepiness (EDS).

Retina: The nerve-rich membrane that forms the innermost region of the eye. As light passes through other areas of the eye (including the cornea, pupil, and lens), it is bent or refracted to focus on the retina, which contains nerve cells that respond to light (photoreceptors). Images formed on the retina are converted into nerve impulses that are transmitted to the brain via the optic nerve (second cranial nerve).

Retinal: Referring to the retina, which is the nerve-rich membrane forming the innermost region of the eye. As light passes through the eye, it is bent (refracted) to focus on the retina, which contains photoreceptors or specialized nerve cells that respond to light. Images formed on the retina are converted into nerve impulses, which are then transmitted to the brain by the optic nerve (also known as the second cranial nerve).

Retrocollis: spasmodic torticollis in which the head is drawn directly backward.

Retroperitoneum: The retroperitoneal area is the area behind peritoneum, the covering of the intestines. The kidneys and the adrenal glands lie in the retroperitoneal area.

Reye syndrome: A potentially life-threatening disease characterized by sudden inflammation and swelling of the brain (acute encephalopathy) and rapid fat accumulation within certain internal organs (viscera), particularly the liver, occurring subsequent to certain viral infections, such as chickenpox or upper respiratory tract infections (e.g., influenza B). Reye syndrome primarily occurs in children and adolescents, although it has sometimes been reported during infancy or young adulthood. About a week after the onset of a viral infection, patients may develop uncontrollable vomiting, followed by a rapid onset of listlessness, confusion, and memory loss, a state of unconsciousness (coma), seizures, and/or other findings, potentially leading to life-threatening complications. Evidence suggests that the use of aspirin-containing preparations (salicylates) as a treatment for particular viral infections plays a role in the development of Reye syndrome. Therefore, experts advise that such medications be avoided for the treatment of viral infections during infancy, childhood, adolescence, and young adulthood.

Rhythmical myoclonus: Involuntary, shock-like contractions or spasms of a muscle or muscle group that occur in a rhythmical pattern. This usually occurs as a result of a lesion in the central nervous system.

Ribonucleic acid (RNA): RNA is a chemical that is found in the nucleus and cytoplasm of cells; it plays an important role in protein synthesis and other chemical activities of the cell.

Ribosomes: Ribosomes are small structures within a cell that are the site of protein synthesis.

Rigidity: Stiffness and resistance to movement. May be a symptom of a neurologic movement disorder such as Parkinson’s disease.

Rush Hallucination Inventory: This standardized clinician-administered questionnaire assesses the presence or absence of false visual (see), auditory (hear), tactile (touch), or gustatory (taste) experiences in the setting of a clear sensorium.

Schizophrenia: a psychiatric disorder characterized by hallucinations, delusions, disordered thinking, unusual speech or behavior and social withdrawal that impair the affected person’s ability to interact with others.

– return to top of page –


Scoliosis: Lateral or “sideways” curvature of the normally vertical line of the spine. Progressive spinal deformity may be associated with numerous neuromuscular and neurodevelopmental disorders (neurogenic scoliosis), such as cerebral palsy, spinal muscular atrophy, and Rett syndrome. The severity of the deformity varies, depending upon the degree of weakness, the nature and progression of the underlying disorder, or other factors.

Sedation: An induced state of quiet or sleep.

Seizures: Episodes of uncontrolled electrical activity in the brain. These abnormal electrical disturbances may lead to involuntary jerking, spasms, or rhythmic contraction and relaxation of certain muscle groups and impaired control of involuntary functions such as breathing or bladder or bowel control. There may also be loss of consciousness or sensory or behavioral abnormalities.

Sensorimotor: Pertaining to both the sensory and motor aspects of a bodily function.

Sequelae: Plural of sequela, which is any abnormal condition that occurs subsequent to and/or is caused by disease, injury, or treatment.

Sequence: As a noun, a sequence is a series of chemical bases—adenine (A), thymine (T), cytosine (C) and guanine (G)—in DNA or a string of amino acids in a protein. As a verb, sequence refers to the process of determining the order of the bases or amino acids.

Serotonin (3-[2-aminoethyl]-5-indolol): A vasoconstrictor found in many tissues of the body that is present in relatively high concentrations in portions of the central nervous system (e.g., hypothalamus, basal ganglia, etc.). Serotonin functions as a neurotransmitter, regulating the delivery of messages between nerve cells (neurons). This neurotransmitter is thought to play some role in regulating consciousness and mood states. Serotonin is also present in other tissues of the body such as the intestines and blood platelets.

Sialidosis: A lysosomal storage disease in which deficiency of the enzyme neuraminidase leads to abnormal accumulation of certain complex carbohydrates (sialyloligosaccharides) in particular tissues and organs. There are different variants of the disorder, based upon age of onset, severity, and other factors. Sialidosis type I, also known as “cherry-red-spot myoclonus syndrome,” usually becomes apparent during the second decade of life. Associated symptoms include the development of characteristic, cherry-red circular areas within the middle layers of the eyes; gradual loss of visual clarity; and sudden, involuntary, “shock-like” contractions (myoclonus) of muscles of the arms and legs. The myoclonus is progressive in nature and may be triggered by voluntary movements (action myoclonus) or certain external stimuli, such as sound (reflex myoclonus). Sialidosis is inherited as an autosomal recessive trait.

Sialorrhea: Excess production of saliva, or increased retention of saliva in the mouth, due to difficulty swallowing.

Side effect: An effect of a drug that is not the main or intended effect. Side effects may be of no concern, or they may be bothersome or even dangerous, in which case they may limit the upper dose a patient can tolerate. Side effects are also called adverse effects.

Single photon emission computed tomography (SPECT): A noninvasive scanning procedure during which a radioactive substance known as a radionuclide is introduced into the body to help evaluate the function and structure of certain organs or tissues. The amount of the substance taken up by particular tissues may depend upon the amount of blood flow within such regions. For example, absence of radionuclide uptake in a targeted region may indicate a lack of blood flow in certain areas. Following intravenous administration of the radioactive compound, a specialized rotating camera detects the radiation emanating from the radionuclides in the form of particles known as protons. The recorded images may produce colorized, horizontal and vertical cross sections and be reconstructed by computer to create three-dimensional images. By evaluating the blood supply to particular tissues, SPECT may be particularly helpful in detecting certain changes within the central nervous system or the heart.

Sinus bradycardia: an abnormally slow heart rate (i.e., of less than 60 beats per minute).

Sleep fragmentation: Sleep fragmentation is a continual disruption of sleep, which often leads to excessive daytime sleepiness. This disruption can occur as the result of a variety of factors, including sleep disorders, the need to get up to use the bathroom, pain, and a noisy or uncomfortable sleeping environment.

Sleep latency: The interval of time between “settling in” to go to sleep and the onset of sleep.

Sleep maintenance: Once asleep, the ability to remain asleep.

Spasmodic dysphonia (SD): A manifestation of dystonia. SD involves the muscles of the larynx and surrounding muscles and therefore involves speech. In individuals with SD, speech in blocked by intermittent spasms of the voice box (larynx).

Spasmodic torticollis (ST): A form of dystonia involving the muscles of the neck, and therefore called “cervical dystonia.” As a result of the abnormal involuntary contractions of the neck muscles, the head may be rotated, tilted, flexed, extended, or any combination of these postures. The movements may be quick, sustained, or patterned and, therefore, may be associated with tremor.

Spasmolytic: Antispasmodic; referring to agents that may eliminate or relieve spasms, typically of involuntary (i.e., smooth) muscle, such as within the arteries, the intestine, the ring-shaped muscles around certain natural openings or passages (sphincters), the bladder, the muscular tubes that carry urine from the kidneys to the bladder (ureters), etc.

Spasticity: An abnormal increase in muscle tone that may be caused by certain types of damage to the nerve pathways regulating muscles. Spasticity is a common complication of cerebral palsy, brain injuries, spinal cord injuries, multiple sclerosis, and stroke. Spasticity can lead to incoordination, loss of function, pain, and permanent muscle shortening, or contracture.

Spinal cord: The cylindrical structure of nerve tissue that, together with the brain, comprises the central nervous system. The spinal cord is an extension of the medulla oblongata–which is part of the lowest region of the brain (brainstem)–and is contained within a central canal in the spinal column. The spinal cord and the brain are surrounded by a protective, 3-layered membrane (meninges). Cerebrospinal fluid (CSF) flows through the cavities (ventricles) of the brain, the spinal cord’s central canal, and the space between the middle and inner layers of the meninges (subarachnoid space). The spinal cord consists of an inner core of gray matter and surrounding areas of white matter, composed of bundles of myelinated nerve fibers (axons) known as spinal tracts. These include ascending tracts that carry sensory impulses up the spinal cord to the brain and descending tracts that transmit motor impulses from the brain down the spinal cord. Nerves emerge from both sides of the spinal cord (i.e., spinal nerves) through the narrow gaps (foramina) between bones of the spinal column (vertebrae). The spinal nerves, which are attached to the spinal cord by specialized nerve bundles (spinal nerve roots), contain both motor and sensory neurons.

Spinocerebellar ataxias (SCA): This group of disorders, of which there are now 17 genetically identified types, are inherited as an autosomal dominant genetic trait and appear to be mostly due to increased numbers of repeats in the various genes involved (as in HD). All types of SCA involve degeneration of the cerebellum, causing impaired balance, walking, and coordination. Each type of SCA has its own typical pattern of symptoms; however, these may vary greatly from person to person. Some forms of SCA affect eye movements, swallowing, thinking, reflexes, or cause parkinsonism, chorea, or dystonia. In most types of SCA, the onset of symptoms occurs during adulthood; symptoms slowly become worse over the years.

Sporadically: Occurring intermittently, randomly, or in isolation.

SSRIs: Selective serotonin reuptake inhibitors. Drugs belonging to this class are antidepressant agents that selectively inhibit the absorption of serotonin at certain nerve membranes (e.g., presynaptic neuronal membranes). These drugs increase the concentration of serotonin within the central nervous system and enhance serotonin’s neurotransmission activities.

Stereotactic: refers to use of precise coordinates to identify deep structures of the brain. The coordinates may be obtained by fitting a patient’s head with a special frame and taking a CT or MRI scan. The position of the brain structures relative to the frame permits fine localization of the deep brain structures. Stereotactic methods are used during brain surgery for tremor, Parkinson’s disease, and dystonia. These brain structures are located with precise, three-dimensional coordinates.

Stereotypic: Inappropriate, persistent repetition of particular bodily postures, actions, or speech patterns. These are typically involuntary, rhythmic, coordinated, and purposeless movements, postures, or vocalizations that may appear ritualistic or purposeful in nature. Stereotypies may be associated with a variety of neurologic and behavioral disorders, such as Tourette syndrome, obsessive-compulsive disorders, Rett syndrome, restless legs syndrome, schizophrenia, and autism.

Stereotypical: Conforming to a repetitive pattern as in repetition of particular movements or gestures.

Stimulus: A stimulus is something that creates a response in a muscle, nerve, gland or other excitable tissue or organ of the body. The plural is stimuli.

Stretch reflex: Contraction of a muscle stimulated by rapid stretching.

Stretch-loop circuits: Pathways of electrical impulses along specific nerve fibers (alpha motoneurons) that result in a “stretch” reflex in a muscle.

Striatum: An area of the brain that controls movement and balance. It is connected to and receives signals from the substantia nigra.

Substantia nigra: A dark band of gray matter deep within the brain where cells manufacture the neurotransmitter dopamine for movement control. Degeneration of cells in this region may lead to a neurologic movement disorder such as Parkinson’s disease.

Substrate: A chemical substance that is acted upon by an enzyme is called a substrate.

Subthalamic nucleus: The subthalamic nucleus is an oval mass of gray matter located beneath the thalamus.

Sydenham’s chorea: A usually self-limited condition in which chorea develops in association with an inflammatory disease caused by certain strains of streptococci bacteria. This disease, known as rheumatic fever, is characterized by the sudden onset of fever and joint pain, with subsequent inflammation of the heart (carditis), chest pain, skin rash, and other symptoms. If rheumatic fever involves the nervous system, Sydenham’s chorea may develop. This condition commonly affects children aged 5 to 15 or women during pregnancy. Sydenham’s chorea involves involuntary, uncontrollable, jerky movements that gradually worsen in severity, potentially affecting arm movements, the manner of walking (gait), and speech. In most patients, the condition spontaneously resolves in weeks or months.

Sympathetic nervous system: Part of the nervous system that along with the parasympathetic nervous system forms the autonomic nervous system (ANS). The ANS regulates the functioning of involuntary structures, such as the glands, smooth muscle, and heart. The sympathetic nervous system regulates certain involuntary responses during times of strong emotion, such as fear or anger; exercise; or other forms of stress. These responses, sometimes referred to as the “fright-or-flight response,” include widening of the pupils; increased heart and breathing rates; constriction of most blood vessels, raising blood pressure; widening of those blood vessels that supply skeletal muscles; and reduction in the rate of peristalsis.

Synapse: The junction between two neurons or between a neuron and an effector organ. As a nerve impulse reaches a synapse, the terminal or end of the “presynaptic” neuron’s axon releases neurotransmitters, which diffuse across the gap and bind to receptors of the “postsynaptic” neuron or the effector organ (i.e., muscle or gland). As the electrical impulse is conducted across the gap, electrical changes are triggered that serve to continue or hinder transmission of the impulse.

Synthesis: The formation of a complex chemical compound through the union of simpler substances.

Systemic lupus erythematosus: an autoimmune disease involving multiple organ systems that is defined clinically and associated with antibodies directed against cell nuclei.

– return to top of page –


Tardive dyskinesia: A movement disorder that may result from extended therapy with certain antipsychotic medications such as haloperidol. The condition is characterized by involuntary, rhythmic movements of the face, jaw, mouth, and tongue, such as lip pursing, chewing movements, or protrusion of the tongue. Facial movements are sometimes accompanied by involuntary, jerky or writhing motions (choreoathetoid movements) of the trunk, arms, and legs. In some patients, symptoms discontinue months or years after withdrawal of antipsychotic therapy. However, in others, the condition may not be reversible.

Tardive dystonia: A form of tardive dyskinesia characterized by chronic dystonia due to administration of medications that block dopamine D2 receptors (dopamine receptor antagonists), such as certain antipsychotic agents. (Dopamine receptors are molecules on the surfaces of receiving nerve cells that are sensitive to stimulation by dopamine, a neurotransmitter that controls movement and balance. Several types of dopamine receptors have been identified, including D1, D2, and D3.) Dystonia is a neurologic movement disorder characterized by sustained muscle contractions that often result in repetitive twisting motions or unusual postures or positions. Tardive dystonia is the most common form of secondary dystonia–i.e., dystonia that results from certain environmental factors or “insults” that affect the brain. In adults, tardive dystonia often initially affects facial or neck muscles. Dystonia may remain limited to such regions or extend to affect adjacent muscles of the trunk and arms. Children are more likely to be affected by generalized dystonia that involves muscles of the trunk and legs.

Tauopathy: Tauopathy refers to any group of diseases that cause dementia related to a problem with tau, a protein that is important in maintaining the structure of brain cells.

Tay-Sachs disease: A progressive neurodegenerative metabolic disorder that belongs to a group of diseases called lysosomal storage diseases. Also known as GM2 gangliosidosis type I or infantile type, Tay-Sachs disease results from deficiency of the enzyme hexosaminidase A, which leads to an abnormal accumulation of certain fats (i.e., gangliosides) in particular tissues, particularly nerve cells of the brain. An autosomal recessive disorder, Tay-Sachs disease primarily affects individuals of northeastern European Jewish (Ashkenazi Jewish) ancestry. Symptom onset typically begins from about 3 to 6 months of age. Associated symptoms may include an exaggerated startle response, increasing listlessness, loss of previously acquired skills (psychomotor regression), severely diminished muscle tone (hypotonia), and the development of characteristic, cherry-red circular areas within the middle layers of the eyes (Tay’s sign). With disease progression, affected infants and children may develop increasing muscle stiffness or rigidity; seizures; sudden, involuntary, “shock-like” contractions of multiple muscle groups in response to certain stimuli (generalized, stimuli-sensitive myoclonus); enlargement of the brain (metabolic megalencephaly); deafness; blindness; and dementia. Life-threatening complications may develop between 2 to 5 years of age.

Tendon: A tough fibrous cord of tissue that attaches muscle to bone (or other structures of the body).

Teratogenic: Possessing the ability to disrupt normal fetal development and causing fetal abnormalities.

Thalamus: An area of the brain consisting of 2 relatively large masses of gray matter. The thalamus relays information from most sensory organs to the outer region of the cerebrum or cerebral cortex; receives and processes messages from the body concerning heat, cold, pain, pressure, and touch; and influences motor activity of the cerebral cortex.

Threshold: A pain threshold is the point at which a feeling or sensation becomes painful.

Tics: Involuntary, compulsive, stereotypic muscle movements or vocalizations that abruptly interrupt normal motor activities. These repetitive, purposeless motions (motor tics) or utterances (vocal tics) may be simple or complex in nature; may be temporarily suppressed; and are often preceded by a “foreboding” sensation or urge that is temporarily relieved following their execution. Simple tics include abrupt, isolated movements, such as repeated facial twitching, blinking, or shoulder shrugging, and simple sounds, including grunting, throat clearing, or sighing. Complex tics may involve more sustained, complex movements, such as deep knee bending or leg kicking, or complex vocalizations, including repeating another person’s words or phrases (echolalia) or, rarely, explosive cursing (coprolalia). Tourette syndrome is defined as the presence of multiple motor and vocal tics for at least one year, changes in the nature of the tics (e.g., complexity, severity, anatomical location) during the course of the disorder, and symptom onset before age 21.

Tone: Resistance or tension in a muscle when a limb or other body part is moved passively and in a relaxed state about a joint. A state of muscle tension balanced by partial contraction or alternate contraction and relaxation.

TorsinA: TorsinA is a protein that, when defective, may cause DYT-1 dystonia. Although its exact function is not known, TorsinA is believed to be related to a series of compounds that enable cells to recover from stress and injury.

Toxic metabolites: Potentially harmful substances formed as the result of normal body functions.

Toxin: A toxin is a poisonous substance that is produced by a plant or animal.

Transient: Temporary; transitory; not lasting or enduring.

Tremor: Rhythmic, involuntary, oscillatory (or to-and-fro) movements of a body part.

Tropical spastic paraparesis (HTLV-1-associated myelopathy): A rare disorder characterized by slowly progressive weakness (paraparesis), stiffness (rigidity), and spasticity of the leg muscles due to infection with the human T-cell lymphotropic virus-1 (HTLV-1). Modes of transmission include sexual contact, mother-to-child transmission (e.g., via breastfeeding), and blood transfusion.

Tryptophan: an essential amino acid.

Tyrosine: an aromatic nonessential amino acid that is a metabolic precursor of thyroxine, the pigment melanin, and other biologically important compounds.

– return to top of page –


Unified Parkinson Disease Rating Scale (UPDRS): The UPDRS is the most commonly used to tool to rate the symptoms of Parkinson’s disease. This scale is intended to be used to follow the course of Parkinson’s disease in patients over a period of time. It is made up of three parts: (1) Mentation (the process of thinking), Behavior, and Mood; (2) Activities of Daily Living; and (3) Motor symptoms.

Unilateral: Affecting, pertaining to, or confined to one side only.

Unverricht-Lundborg’s disease (Baltic myoclonic epilepsy): A form of progressive myoclonic encephalopathy (PME) characterized by the development of repeated seizures or episodes of uncontrolled electrical activity of the brain (epilepsy); sudden, “shock-like” muscle contractions that may be induced by voluntary movements or in response to certain external stimuli (action or reflex myoclonus); and eventual impairment of coordination, postural instability, and other associated findings (i.e., cerebellar ataxia). Although mental deterioration may also be associated with the disorder, it is typically milder than that seen with Lafora’s disease (another form of PME). Unverricht-Lundborg’s disease is thought to be inherited as an autosomal recessive trait. Symptom onset typically begins from about age 6 to 13. The disorder is slowly progressive; however, the degree of disease progression and disability may be extremely variable among affected family members.

Upper motor neurons: Nerve cells extending from the brain to the spinal cord that control movement.

– return to top of page –


Vaginosis: Bacterial vaginosis involves the abnormal increased growth of certain bacteria in the vagina.

Valine: an essential amino acid.

Variable expressivity: Varying manifestation of a genetic trait. The term “expressivity” refers to the degree to which a hereditary trait appears in an individual. Thus, in individuals with a gene mutation for an autosomal dominant disorder that has variable expressivity, the specific characteristics that are manifested may vary in range and degree from mild to severe.

Vascular: Pertaining to or containing blood vessels.

Vasoconstrictor: A chemical substance whose actions result in the narrowing of blood vessels.

Vasodilator: A chemical substance whose actions cause an increase in the diameter of blood vessels.

Vasomotor: Pertaining to the muscles and nerves that control blood vessel diameter, thereby regulating or modulating blood pressure.

Ventral intermediate (VIM) nucleus: A specific region of the thalamus. This area of the brain is involved in the control of movement and is the “target” area for thalamotomy and deep brain stimulation when treating patients with tremor.

Ventriculography: Brain imaging method that uses an injected dye and X-rays to visualize the brain’s ventricles (cavities)

Virulent: Referring to or characterized by virulence or the degree to which an invading microorganism, such as a bacterium or virus, is able to produce disease. Measures of virulence may be based upon the microorganism’s ability to invade bodily tissues and the severity of the disease produced.

Visual-analog scale: This linear scale allows responses on a continuum.

– return to top of page –


White matter: Bundles of myelinated nerve fibers or axons. These nerve fibers have a creamy white appearance due to myelin, a whitish substance that primarily contains fats and proteins. Myelin forms a protective, insulating sheath around certain axons, functioning as an electrical insulator and ensuring efficient nerve conduction. The breakdown, destruction, or loss of myelin from a nerve or nerves (demyelination), such as seen in certain neurodegenerative diseases, results in impaired nerve impulse transmission.

Wilson disease: A rare genetic disorder of copper metabolism, leading to an excessive accumulation of copper in certain tissues and organs, including the liver, brain, kidneys, or corneas of the eyes. Without prompt, appropriate treatment, the disorder may result in progressive liver disease, degenerative changes of the brain, psychiatric abnormalities, and other symptoms. Neurologic findings may include tremor; involuntary, rapid, jerky movements combined with relatively slow, writhing movements (choreoathetosis); impaired muscle tone and sustained muscle contractions, producing repetitive movements and abnormal posturing; increasingly slurred speech; and difficulties swallowing. Some patients may also experience increasing irritability, anxiety, severe depression, unusual behaviors, or other psychiatric problems.

– return to top of page –


X-linked dominant trait: Human traits, such as an individual’s specific blood group, eye color, or expression of certain diseases, result from the interaction of one gene inherited from the mother and one from the father. In X-linked dominant disorders, the gene mutation for the disease trait is transmitted as a dominant gene on the X chromosome and therefore may “override” the instructions of the normal gene on the other chromosome, resulting in expression of the disease. Because females have two X chromosomes yet only one functioning copy is necessary, a percentage of X chromosomes with the mutated gene may not be expressed (random X chromosome inactivation). As a result, females often have less severe symptoms than affected males. In contrast, because males have one X chromosome from the mother and one Y chromosome from the father, those who inherit an X-linked dominant disease trait typically fully express the mutated gene on the X chromosome, causing a more severe form of the disorder that may result in lethality before or shortly after birth. Fathers with an X-linked dominant trait transmit the gene to their daughters but not to their sons. Mothers with a single copy of an X-linked dominant gene have a 50 percent risk of transmitting the gene to their daughters as well as to their sons.

X-linked recessive trait: Human traits, such as a person’s eye color, specific blood group, or expression of certain diseases, result from the interaction of one gene inherited from the mother and one from the father. In X-linked recessive disorders, the gene mutation for the disease trait is located on the X chromosome. Because females have two X chromosomes yet only one functioning copy is necessary, a percentage of X chromosomes with the mutated gene may not be expressed (random X chromosome inactivation). However, because males have one X chromosome from the mother and one Y chromosome from the father, those who inherit an X-linked recessive disease trait typically fully express the mutated gene on the X chromosome. Some females who carry a single copy of the disease gene (heterozygous carriers) may have certain symptoms associated with the disorder; however, such findings are usually more variable and less severe than those seen in affected males. Fathers with an X-linked recessive trait may transmit the gene to their daughters but not to their sons. Mothers with an X-linked recessive gene have a 50 percent risk of transmitting the gene to their daughters and their sons.

– return to top of page –


– return to top of page –


Zydis: Unlike drugs that are incorporated into pills or capsules that must be swallowed, Zydis drugs are incorporated into fast-dissolving freeze-dried wafers that “melt” on the tongue. The term Zydis refers to the vehicle that is used for drug delivery and not to the drug itself.

– return to top of page –