muscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birth.
mitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF.
glycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseases.
myoglobinurias: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseases.
dermatomyositis: an inflammatory myopathy of skin and muscle myositis ossificans: characterized by bone growing in muscle tissue.
familial periodic paralysis: characterized by episodes of weakness in the arms and legs.
polymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscle.
neuromyotonia: characterized by alternating episodes of twitching and stiffness.
stiff-man syndrome: characterized by episodes of rigidity and reflex spasms common muscle cramps and stiffness, and tetany: characterized by prolonged spasms of the arms and legs.
Myotonia - is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present since early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest. The disease doesn't cause muscle wasting; in fact, it may cause muscle enlargement. Muscle strength is increased. There are two forms of the disorder: Becker-type, which is the most common form; and Thomsen's disease, which is a rare and milder form. The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles.
Narcolepsy - a neurological condition most characterized by Excessive Daytime Sleepiness (EDS). A narcoleptic will most likely experience disturbed nocturnal sleep, which is often confused with insomnia, and disorder of REM or rapid eye movement sleep. It is one of the dyssomnias. A narcoleptic may also sleep at any random time.
Neuroacanthocytosis - a rare movement disorder marked by progressive muscle weakness and atrophy, progressive cognitive loss, chorea (involuntary twisting movements of the body), and acanthocytosis (spiked red blood cells associated with several inherited neurological disorders). Other symptoms include facial tics, uncontrolled muscle movement, instability when walking, seizures, biting of the tongue and lips, and changes in personality, comprehension, and judgment.
Neurodegeneration with Brain Iron Accumulation - (NBIA) is a rare, inherited, neurological movement disorder characterized by progressive degeneration of the nervous system. Symptoms, which vary greatly among patients and usually develop during childhood, may include slow writhing, distorting muscle contractions of the limbs, face, or trunk, choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia.
Neurofibromatosis - an autosomal dominant genetic disorder. It encompasses a set of distinct genetic disorders that cause tumors to grow along types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. The tumors can grow anywhere on or in the body.
Neuroleptic Malignant Syndrome - (NMS) is a life-threatening, neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. It generally presents with muscle rigidity, fever, autonomic instability and cognitive changes such as delirium, and is proven on a raised creatine phosphokinase (CPK). Treatment is generally supportive.
Neurological Complications of AIDS - AIDS is primarily an immune system disorder caused by the human immunodeficiency virus (HIV), but it can also affect the nervous system. HIV does not appear to directly invade nerve cells but it jeopardizes their health and function, causing symptoms such as confusion, forgetfulness, behavioral changes, severe headaches, progressive weakness, loss of sensation in the arms and legs, stroke, cognitive motor impairment, or damage to the peripheral nerves. Other complications that can occur as a result of HIV infection or the drugs used to treat it include pain, seizures, shingles, spinal cord problems, lack of coordination, difficult or painful swallowing, anxiety disorder, depression, fever, vision loss, gait disorders, destruction of brain tissue, and coma.
Neurological Complications Of Lyme Disease - Lyme disease is caused by a bacterial organism that is transmitted to humans via the bite of an infected tick. Most people bitten by an infected tick develop a characteristic skin rash around the area of the bite. The rash may feel hot to the touch, and vary in size, shape, and color, but it will often have a "bull's eye" appearance (a red ring with a clear center). However, there are those who will not develop the rash, which makes Lyme disease hard to diagnose because its symptoms and signs mimic those of many other diseases.
Neurological Consequences of Cytomegalovirus Infection - CMV is in the same family of viruses that includes herpes simplex types 1 and 2, and the viruses that cause infectious mononucleosis (EBV), chickenpox, and shingles. A hallmark of CMV is the reappearance of symptoms throughout life, as the virus cycles through periods of dormancy and active infection.
Neurological Manifestations of Pompe Disease - Pompe disease is a rare inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.
Neurological Sequelae Of Lupus - is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In lupus, the immune system is over-active and produces increased amounts of abnormal antibodies that attack the body's tissues and organs. Lupus can affect many parts of the body, including the joints, skin, kidneys, lungs, heart, nervous system, and blood vessels.
Neuromyelitis Optica or Devic's disease - an autoimmune, inflammatory disorder in which a person's own immune system attacks the optic nerves and spinal cord. This produces an inflammation of the optic nerve (optic neuritis) and the spinal cord (myelitis). Although inflammation may also affect the brain, the lesions are different to those observed in the related condition multiple sclerosis. Spinal cord lesions lead to varying degrees of weakness or paralysis in the legs or arms, loss of sensation, and/or bladder and bowel dysfunction. Devic's disease is a rare disorder which resembles multiple sclerosis (MS) in several ways.
Neuromyotonia - also known as Isaacs' Syndrome, is spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin.
Neuronal Ceroid Lipofuscinosis - (NCL, also known as Batten Disease) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumlation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the technical word lipo, which is short for "lipid" or fat, and from the term pigment, used because they take on a greenish-yellow color when viewed under an ultraviolet light microscope. The lipopigments build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues.
Neuronal Migration Disorders - (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system.
Neuropathy - Hereditary - a group of inherited disorders of the peripheral nervous system. Within the group there are 4 subcategories of disorders, including hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy. Symptoms of these disorders vary and may include numbness and tingling in the feet and hands, muscle weakness (especially in the distal muscles), scoliosis, thin lower legs, foot deformities, insensitivity to pain, and autonomic symptoms such as impaired sweating, postural hypotension, and skin blotching.
Neurosarcoidosis - refers to sarcoidosis, a condition of unknown cause featuring granulomas in various tissues, involving the central nervous system (brain and spinal cord). It can have many manifestations, but abnormalities of the cranial nerves (a group of twelve nerves supplying the head and neck area) are the most common. It may develop acutely, subacutely, and chronically.
Neurotoxicity - occurs when the exposure to natural or manmade toxic substances, which are called neurotoxins, alters the normal activity of the nervous system. This can eventually disrupt or even kill neurons, key cells that transmit and process signals in the brain and other parts of the nervous system. Neurotoxicity can result from exposure to substances used in chemotherapy, radiation treatment, drug therapies and organ transplants, as well as exposure to heavy metals such as lead and mercury, certain foods and food additives, pesticides, industrial and/or cleaning solvents, cosmetics, and some naturally occurring substances.
Nevus Cavernosus - or cavernous angioma, vascular malformation composed of sinusoidal vessels without a large feeding artery; can be multiple, especially if inherited as an autosomal-dominant trait.
Niemann-Pick Disease - an autosomal recessive disorder affecting lipid metabolism (the breakdown and use of fats and cholesterol in the body), in a way which causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.
Non 24 Sleep Wake Disorder - (See Hypernychthemeral Disorder)
Normal Pressure Hydrocephalus - (NPH) is an abnormal increase of cerebrospinal fluid (CSF) in the brain's ventricles, or cavities. It occurs if the normal flow of CSF throughout the brain and spinal cord is blocked in some way. This causes the ventricles to enlarge, putting pressure on the brain.
Occipital Neuralgia - is a distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side of the head. Typically, the pain of occipital neuralgia begins in the neck and then spreads upwards. Some individuals will also experience pain in the scalp, forehead, and behind the eyes. Their scalp may also be tender to the touch, and their eyes especially sensitive to light.
Occult Spinal Dysraphism Sequence - or Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence.
Ohtahara Syndrome - is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures Individuals with Ohtahara syndrome often have mental retardation or other developmental impairments. The cause of the disorder is unknown.
Olivopontocerebellar Atrophy - (OPCA) is a term used to define neuronal degeneration in the cerebellum, pontine nuclei, and inferior olive. OPCA may also be found in the brains of individuals with prion disorders and inherited metabolic diseases. The characteristic areas of brain damage that indicate OPCA can be seen by imaging the brain using CT scans or MRI studies.
Opsoclonus Myoclonus - (OMS) is a rare neurological disorder of unknown causes which appears to be the result of an autoimmune process involving the nervous system. It is an extremely rare condition, affecting as few as 1 in 10,000,000 people per year. It affects 2 to 3% of children with neuroblastoma. In most cases OMS starts with an acute flare-up of physical symptoms within days or weeks, but some less obvious symptoms such as irritability and malaise may begin weeks or months earlier
Orthostatic Hypotension - (also known as postural hypotension, orthostatic reflect, orthostatic intolerance and, colloquially, as head rush or a dizzy spell) is a sudden fall in blood pressure, typically greater than 20/10 mm Hg, that occurs when a person assumes a standing position, usually after a prolonged period of rest. Symptoms, which occur after standing, include dizziness, lightheadedness, headache, blurred or dimmed vision (possibly to the point of momentary blindness), generalized (or extremity) numbness/tingling and fainting. They are consequences of insufficient blood pressure and cerebral perfusion (blood supply).
O'Sullivan-McLeod Syndrome - or Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible for controlling voluntary muscles. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. There is no pain associated with MMA. While some physicians contend that mild sensory loss may be associated with this disease, many experts suggest that such symptoms actually indicate a cause other than MMA. MMA occurs in males between the ages of 15 and 25.
Overuse Syndrome - Can also be known as Carpal Tunnel Syndrome (CTS) is a condition where a part of the body is injured by repeatedly overusing or exerting to much strain on that body part. Strain occurs when the body part is called on to work harder, stretch farther, impact more directly or otherwise function at a greater level then it is prepared for. The immediate impact may be minute, but when it occurs repeatedly the constant straining cause damage.
Pantothenate Kinase-Associated Neurodegeneration - (PKAN), also known as Hallervorden-Spatz syndrome, is a degenerative disease of the brain, which can lead to parkinsonism. Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds in the brain.
Paraneoplastic Syndromes - are a group of rare degenerative disorders that are triggered by a person's immune system response to a neoplasm, or cancerous tumor. Neurologic paraneoplastic syndromes are believed to occur when cancer- fighting antibodies or white blood cells known as T cells mistakenly attack normal cells in the nervous system. These disorders typically affect middle-aged to older persons and are most common in persons with lung, ovarian, lymphatic, or breast cancer. Neurologic symptoms generally develop over a period of days to weeks and usually occur prior to tumor detection, which can complicate diagnosis. These symptoms may include difficulty in walking and/or swallowing, loss of muscle tone, loss of fine motor coordination, slurred speech, memory loss, vision problems, sleep disturbances, dementia, seizures, sensory loss in the limbs, and vertigo. Neurologic paraneoplastic syndromes include Lambert-Eaton myasthenic syndrome, stiff-person syndrome, encephalomyelitis (inflammation of the brain and spinal cord), myasthenia gravis, cerebellar degeneration, limbic and/or brainstem encephalitis, neuromyotonia, and opsoclonus (involving eye movement) and sensory neuropathy.
Paresthesia - refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other parts of the body. The sensation, which happens without warning, is usually painless and described as tingling or numbness, skin crawling, or itching.Most people have experienced temporary paresthesia - a feeling of "pins and needles" - at some time in their lives when they have sat with legs crossed for too long, or fallen asleep with an arm crooked under their head. It happens when sustained pressure is placed on a nerve. The feeling quickly goes away once the pressure is relieved.
Parkinson's Disease - (PD) belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells. The four primary symptoms of PD are tremor, or trembling in hands, arms, legs, jaw, and face; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance and coordination. As these symptoms become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. PD usually affects people over the age of 50. Early symptoms of PD are subtle and occur gradually. In some people the disease progresses more quickly than in others. As the disease progresses, the shaking, or tremor, which affects the majority of PD patients may begin to interfere with daily activities. Other symptoms may include depression and other emotional changes; difficulty in swallowing, chewing, and speaking; urinary problems or constipation; skin problems; and sleep disruptions. There are currently no blood or laboratory tests that have been proven to help in diagnosing sporadic PD.
Paroxysmal Choreoathetosis - is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. Involuntary movements precipitate some attacks, and other attacks occur when the individual has consumed alcohol or caffeine, or is tired or stressed. Attacks can last from 10 seconds to over an hour. Some individuals have lingering muscle tightness after an attack. Paroxysmal choreoathetosis frequently begins in early adolescence. A gene associated with the disorder has been discovered. The same gene is also associated with epilepsy.
Paroxysmal Hemicrania - is a rare form of headache that usually begins in adulthood. Patients experience severe throbbing, claw-like, or boring pain usually on one side of the face; in, around, or behind the eye; and occasionally reaching to the back of the neck. This pain may be accompanied by red and tearing eyes, a drooping or swollen eyelid on the affected side of the face, and nasal congestion. Patients may also feel dull pain, soreness, or tenderness between attacks. Attacks of paroxysmal hemicrania typically occur from 5 to 40 times per day and last 2 to 45 minutes. The disorder has two forms: chronic, in which patients experience attacks on a daily basis for a year or more, and episodic, in which the headaches may remit for months or years.
Parry-Romberg - Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males. Initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and subsequently progress to the angle of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. The eye and cheek of the affected side may become sunken and facial hair may turn white and fall out (alopecia). In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation) with, in some cases, areas of hyperpigmentation and patches of unpigmented skin (vitiligo).
Pelizaeus-Merzbacher Disease - PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath - the fatty covering that wraps around and protects nerve fibers in the brain. The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein (PLP). PMD is inherited as an X-linked recessive trait, in that the affected individuals are male and the mothers are carriers of the PLP mutation. Severity and onset of the disease ranges widely, depending on the type of PLP mutation, and extends from the mild, adult-onset spastic paraplegia (SPG2) to the severe form with onset at infancy and death in early childhood. The characteristic set of neurological symptoms includes nystagmus (rapid, involuntary, rhythmic jerking of the eyes and the head), spastic paraparesis (paralysis of the legs with hyperactive tendon reflexes), and limb ataxia (lack of coordination in the arms and legs).
Perineural Cysts - Tarlov cysts are fluid-filled sacs that most often affect nerve roots in the sacrum, the group of bones at the base of the spine. These cysts can compress nerve roots, causing lower back pain, sciatica (shock-like or burning pain in the lower back, buttocks, and down one leg to below the knee), urinary incontinence, sexual dysfunction, and some loss of feeling or control of movement in the leg and/or foot. Pressure on the nerves next to the cysts can also cause pain. Tarlov cysts may become symptomatic following shock, trauma, or exertion that causes the buildup of cerebrospinal fluid. Women are at much higher risk of developing these cysts than are men.
Periodic Paralyzes - Familial periodic paralyzes are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal. The two most common types of periodic paralyzes are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise or high carbohydrate meals. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life. Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common.
Peripheral Neuropathy - describes damage to the peripheral nervous system, the vast communications network that transmits information from the brain and spinal cord (the central nervous system) to every other part of the body. Peripheral nerves also send sensory information back to the brain and spinal cord, such as a message that the feet are cold or a finger is burned. Damage to the peripheral nervous system interferes with these vital connections. Like static on a telephone line, peripheral neuropathy distorts and sometimes interrupts messages between the brain and the rest of the body.
Periventricular Leukomalacia - (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body's muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head.
Pervasive Developmental Disorders - The diagnostic category of pervasive developmental disorders (PDD) refers to a group of disorders characterized by delays in the development of socialization and communication skills. Parents may note symptoms as early as infancy, although the typical age of onset is before 3 years of age. Symptoms may include problems with using and understanding language; difficulty relating to people, objects, and events; unusual play with toys and other objects; difficulty with changes in routine or familiar surroundings, and repetitive body movements or behavior patterns. Autism (a developmental brain disorder characterized by impaired social interaction and communication skills, and a limited range of activities and interests) is the most characteristic and best studied PDD. Other types of PDD include Asperger's Syndrome, Childhood Disintegrative Disorder, and Rett's Syndrome. Children with PDD vary widely in abilities, intelligence, and behaviors.
Pinched Nerve - The term pinched nerve describes one type of damage or injury to a nerve or set of nerves. The injury may result from compression, constriction, or stretching. Symptoms include numbness, "pins and needles" or burning sensations, and pain radiating outward from the injured area. One of the most common examples of a single compressed nerve is the feeling of having a foot or hand "fall asleep." Pinched nerves can sometimes lead to other conditions such as peripheral neuropathy, carpal tunnel syndrome, and tennis elbow. The extent of such injuries may vary from minor, temporary damage to a more permanent condition. Early diagnosis is important to prevent further damage or complications. Pinched nerve is a common cause of on-the-job injury.
Piriformis Syndrome - is a rare neuromuscular disorder that occurs when the piriformis muscle compresses or irritates the sciatic nerve-the largest nerve in the body. The piriformis muscle is a narrow muscle located in the buttocks. Compression of the sciatic nerve causes pain-frequently described as tingling or numbness-in the buttocks and along the nerve, often down to the leg. The pain may worsen as a result of sitting for a long period of time, climbing stairs, walking, or running.
Plexopathy - A disorder affecting a network of nerves, blood vessels, or lymph vessels. The region of nerves it affects are at the brachial or lumbosacral plexus. Symptoms include pain, loss of motor control, and sensory deficits. There are two main types of plexopathy: brachial plexopathy and lumbosacral plexopathy. They are usually caused from some sort of localized trauma such as a dislocated shoulder. The disorder can also be caused secondary to a compression, co-morbid vascular disease, infection, or may be idiopathic with an unknown cause. Both plexopathies can also occur as a consequence of radiation therapy, sometimes after 30 or more years have passed, in conditions known as Radiation-induced Brachial Plexopathy (RIBP) and Radiation-induced Lumbosacral Plexopathy (RILP).
Polymyositis - is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Polymyositis affects skeletal muscles (those involved with making movement) on both sides of the body. It is rarely seen in persons under age 18; most cases are in adults between the ages of 31 and 60. Slow, but progressive muscle weakness starts in the proximal muscles (muscles closest to the trunk of the body) which eventually leads to difficulties climbing stairs, rising from a sitting position, lifting objects, or reaching overhead. People with polymyositis may also experience arthritis, shortness of breath, difficulty swallowing and speaking, and heart arrhythmias.
Pompe Disease - is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 70 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.
Porencephaly - is an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. It is usually the result of damage from stroke or infection after birth (the more common type), but it can also be caused by abnormal development before birth (which is inherited and less common). Diagnosis is usually made before an infant reaches his or her first birthday. Symptoms of porencephaly include delayed growth and development, spastic hemiplegia (slight or incomplete paralysis), hypotonia (low muscle tone), seizures (often infantile spasms), and macrocephaly (large head) or microcephaly (small head).
Postherpetic Neuralgia - (PHN) is a painful condition caused by the varicella zoster virus in a dermatomal distribution (the area governed by a particular sensory nerve) after an attack of herpes zoster (HZ) (commonly known as shingles), usually manifesting after the vesicles have crusted over and begun to heal.
Postinfectious Encephalomyelitis - Acute disseminated encephalomyelitis (ADEM) is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages myelin - the protective covering of nerve fibers. It often follows viral infection, or less often, vaccination for measles, mumps, or rubella. The symptoms of ADEM come on quickly, beginning with encephalitis-like symptoms such as fever, fatigue, headache, nausea and vomiting, and in severe cases, seizures and coma. It may also damage white matter (brain tissue that takes its name from the white color of myelin), leading to neurological symptoms such as visual loss (due to inflammation of the optic nerve) in one or both eyes, weakness even to the point of paralysis, and difficulty coordinating voluntary muscle movements (such as those used in walking). ADEM is sometimes misdiagnosed as a severe first attack of multiple sclerosis (MS), since some of the symptoms of the two disorders, particularly those caused by white matter injury, may be similar. However, ADEM usually has symptoms of encephalitis (such as fever or coma), as well as symptoms of myelin damage (visual loss, paralysis), as opposed to MS, which doesn't have encephalitis symptoms.
Post-Polio Syndrome - (PPS) is a condition that affects polio survivors years after recovery from an initial acute attack of the poliomyelitis virus. PPS is mainly characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that seemingly were unaffected. Symptoms include slowly progressive muscle weakness, unaccustomed fatigue (both generalized and muscular), and, at times, muscle atrophy. Pain from joint degeneration and increasing skeletal deformities such as scoliosis are common. Some patients experience only minor symptoms. While less common, others may develop visible muscle atrophy, or wasting.
Postural Hypotension - Orthostatic hypotension is a sudden fall in blood pressure that occurs when a person assumes a standing position. It may be caused by hypovolemia (a decreased amount of blood in the body), resulting from the excessive use of diuretics, vasodilators, or other types of drugs, dehydration, or prolonged bed rest. The disorder may be associated with Addison's disease, atherosclerosis (build-up of fatty deposits in the arteries), diabetes, and certain neurological disorders including Shy-Drager syndrome and other dysautonomias. Symptoms, which generally occur after sudden standing, include dizziness, lightheadedness, blurred vision, and syncope (temporary loss of consciousness).
Postural Orthostatic Tachyardia Syndrome (POTS) - A disorder characterized by a pulse rate that is too fast when the patient stands. Symptoms include rapid heartbeat, lightheadedness with prolonged standing, headache, chronic fatigue, chest pain, and other nonspecific complaints. Causes of POTS usually are not identified in individual patients. Reversible causes such as low blood volume should be ruled out.
Primary Lateral Sclerosis - (PLS) is a rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the muscles they control. Onset of PLS usually occurs after age 50. Symptoms may include difficulty with balance, weakness and stiffness in the legs, and clumsiness. Other symptoms may include spasticity (sudden, involuntary muscle spasms) in the hands, feet, or legs; foot dragging, and speech problems due to involvement of the facial muscles. The disorder usually begins in the legs, but it may also start in the tongue or the hands.
Prion Diseases - Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope.
Progressive Multifocal Leukoencephalopathy - (PML) is caused by the reactivation of a common virus in the central nervous system of immune-compromised individuals. Polyomavirus JC (often called JC virus) is carried by a majority of people and is harmless except among those with lowered immune defenses. The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkin's disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS). Studies estimate that prior to effective antiretroviral therapy, as many as 5 percent of people with AIDS eventually developed PML. For them, the disease was most often rapidly fatal.
Progressive Sclerosing Poliodystrophy - Alpers' disease is a rare, genetically determined disease of the brain that causes progressive degeneration of grey matter in the cerebrum. The first sign of the disease usually begins early in life with convulsions. Other symptoms are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs), dementia, and liver conditions such as jaundice and cirrhosis that can lead to liver failure. Optic atrophy may also occur, often causing blindness. Researchers believe that Alpers' disease is caused by an underlying metabolic defect. Some patients have mutations in mitochondrial DNA. Researchers suspect that Alpers' disease is sometimes misdiagnosed as childhood jaundice or liver failure, since the only method of making a definitive diagnosis is by autopsy or brain biopsy after death.
Progressive Supranuclear Palsy - (PSP) is a rare brain disorder that causes serious and permanent problems with control of gait and balance. The most obvious sign of the disease is an inability to aim the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. Some patients describe this effect as a blurring. PSP patients often show alterations of mood and behavior, including depression and apathy as well as progressive mild dementia.
Prosopagnosia - Prosopagnosia is a neurological disorder characterized by the inability to recognize faces. Prosopagnosia is also known as face blindness or facial agnosia. The term prosopagnosia comes from the Greek words for "face" and "lack of knowledge." Depending upon the degree of impairment, some people with prosopagnosia may only have difficulty recognizing a familiar face; others will be unable to discriminate between unknown faces, while still others may not even be able to distinguish a face as being different from an object. Some people with the disorder are unable to recognize their own face. Prosopagnosia is not related to memory dysfunction, memory loss, impaired vision, or learning disabilities. Prosopagnosia is thought to be the result of abnormalities, damage, or impairment in the right fusiform gyrus, a fold in the brain that appears to coordinate the neural systems that control facial perception and memory.
Pseudotumor Cerebri - Pseudotumor cerebri literally means "false brain tumor." It is likely due to high pressure caused by the buildup or poor absorption of cerebrospinal fluid in the subarachnoid space surrounding the brain. The disorder is most common in women between the ages of 20 and 50. Symptoms of pseudotumor cerebri, which include headache, nausea, vomiting, and pulsating intracranial noises, closely mimic symptoms of brain tumors.
Ramsay Hunt Syndrome I - is a rare and nebulous entity that has alternatively been called dyssynergia cerebellaris myoclonica, dyssynergia cerebellaris progressiva, dentatorubral degeneration, or Ramsay Hunt cerebellar syndrome. Characterized by seizures, cognitive impairment, action myoclonus, and progressive ataxia. Symptoms include seizures, tremor, and reduced muscle coordination. Myoclonus and seizures may be treated with drugs like valproate. RHS type 1 is caused by the impairment of a regulatory mechanism between cerebellar and brainstem nuclei and has been associated with a wide range of diseases, including Lafora disease and celiac disease.
Ramsay Hunt Syndrome II - a disorder that is caused by the reactivation of pre-existing herpes zoster virus in a nerve cell bundle (the geniculate ganglion). The neurons in this ganglion are responsible for the movements of facial muscles, the touch sensation of a part of ear and ear canal, the taste function of the frontal two-thirds of the tongue, and the moisturization of the eyes and the mouth. The syndrome specifically refers to the combination of this entity with weakness of the muscles activated by the facial nerve. In isolation the latter entity would be called Bell's Palsy. Symptoms and signs include acute facial nerve paralysis, pain in the ear, taste loss in the front two-thirds of the tongue, dry mouth and eyes, and eruption of vesicles in the ear canal, the tongue, and/or hard palate.
Rasmussen's Encephalitis - a rare, chronic inflammatory disease that usually affects only one hemisphere of the brain. It occurs in children under the age of 10 (and more rarely in adolescents and adults), and is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration.
Reflex Sympathetic Dystrophy Syndrome - RSDS, also called: Causalgia, CRPS, Reflex sympathetic dystrophy, involves a disturbance in the sympathetic nervous system which is the network of nerves located alongside the spinal cord and controls certain bodily functions, such as opening and closing blood vessels or sweat glands. It primarily affects the hands and feet. The cause is unknown, and there is no cure. It can get worse over time, and may spread to other parts of the body. Occasionally it goes away, either temporarily or for good. Treatment focuses on relieving the pain, and can include medicines, physical therapy and nerve blocks.
Refsum Disease - Adult Refsum disease (ARD) is one of a group of genetic diseases called leukodystrophies, which damage the white matter of the brain and affect motor movements. Due to a genetic abnormality, people with ARD disease lack the enzyme that breaks down phytanic acid, a substance commonly found in foods. As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues. The disease usually begins in late childhood with increasing night blindness due to degeneration of the retina (retinitis pigmentosa) and loss of the sense of smell (anosmia). The primary treatment for ARD is to restrict or avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock.
Refsum Disease - Infantile - (IRD) is one of a small group of genetic diseases called peroxisome biogenesis disorders (PBD), which are part of a larger group of diseases called the leukodystrophies. These are inherited conditions that damage the white matter of the brain and affect motor movements. IRD is the mildest of the PBDs; Zellweger syndrome, neonatal adrenoleukodystrophy, and rhizomelic chondrodysplasia have similar, but more severe, symptoms.
Repetitive Motion Disorders - Any of various injuries caused by repetitive motion which may include Carpal tunnel syndrome, Bursitis, Tendonitis, Epicondylitis, Ganglion cyst, Tenosynovitis, Trigger finger, Writer's cramp, Repetitive Strain Injury, Hand-Arm Vibration Syndrome, Tennis elbow, golfer's elbow.
Repetitive Stress Injuries - (RSI), also called cumulative trauma disorder (CTD), occupational overuse syndrome, or work related upper limb disorder (WRULD), is any of a loose group of conditions resulting from overuse of a tool, eg. computer, guitar, knife, etc. or other activity that requires repeated movements. It is a syndrome that affects muscles, tendons and nerves in the hands, arms and upper back.
Restless Legs Syndrome - (RLS, Wittmaack-Ekbom's syndrome, or sometimes referred to as Nocturnal myoclonus) is a condition that is characterized by an irresistible urge to move one's legs. It is described as uncontrollable urges to move the limbs to stop uncomfortable or odd sensations in the body, most commonly in the legs, but can also be in the arms and torso. Moving the affected body part modulates the sensations, providing temporary relief.
Retrovirus-Associated Myelopathy - or Tropical Spastic Paraparesis, For several decades the term "tropical spastic paraparesis" (TSP) was used to describe a chronic and progressive clinical syndrome that affected adults living in equatorial areas of the world. Treatments for Retrovirus-Associated Myelopathy (Tropical Spastic Paraparesis) include: Treatments for spacticity, Lioresal, and Tizanidine.
Rett Syndrome - a childhood neuro-developmental disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation. It affects females almost exclusively. Rett syndrome is caused by mutations (structural alterations or defects) in the MECP2 (pronounced meck-pea-two) gene, which is found on the X chromosome.
Reye's Syndrome - a potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver. It is associated with aspirin consumption by children with viral diseases such as chicken pox. The Centers for Disease Control and Prevention (CDC), the U.S. Surgeon General, the American Academy of Pediatrics (AAP) and the Food and Drug Administration (FDA) recommend that aspirin and combination products containing aspirin not be given to children under 19 years of age during episodes of fever-causing illnesses.
Rheumatic Encephalitis - Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls more often than boys and typically occurs between 5 and 15 years of age.
Riley-Day Syndrome - A very rare congenital disorder of the autonomic nervous system, occurring almost exclusively in Ashkenazi Jewish children. Symptoms include lack of tears, emotional instability, relative indifference to pain and lack of a flare response to skin scratch, corneal ulcers, hypertension, stress, taste deficiency, decreased fungiform and circumvalate papillae, unexplained bouts of fever, urinary frequency, and absent deep tendon reflexes.
Saint Vitus Dance - Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls more often than boys and typically occurs between 5 and 15 years of age. Some children will have a sore throat several weeks before the symptoms begin, but the disorder can also strike up to 6 months after the fever or infection has cleared. Symptoms can appear gradually or all at once, and also may include uncoordinated movements, muscular weakness, stumbling and falling, slurred speech, difficulty concentrating and writing, and emotional instability. The symptoms of SD can vary from a halting gait and slight grimacing to involuntary movements that are frequent and severe enough to be incapacitating. The random, writhing movements of chorea are caused by an auto-immune reaction to the bacterium that interferes with the normal function of a part of the brain (the basal ganglia) that controls motor movements.
Sandhoff Disease - is a rare, genetic, lipid storage disorder resulting in the progressive deterioration of the central nervous system. It is caused by a deficiency of the enzyme beta- hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease--which is prevalent primarily in people of Eastern European and Ashkenazi Jewish descent--but it is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, seizures, and myoclonus (shock-like contractions of a muscle).
Schizencephaly - is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain. Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere (called unilateral clefts) are often paralyzed on one side of the body, but may have average to near-average intelligence. Individuals with schizencephaly may also have an abnormally small head, mental retardation, partial or complete paralysis, or poor muscle tone.
Septo-Optic Dysplasia - (SOD) (de Morsier syndrome) is a congenital malformation syndrome manifested by hypoplasia (underdevelopment) of the optic nerve, hypopituitarism, and absence of the septum pellucidum (a midline part of the brain). In a severe case, this results in pituitary hormone deficiencies, blindness, and mental retardation. However, there are milder degrees of each of the three problems, and some children only have one or two of the three.
Shaken Baby Syndrome - is a type of inflicted traumatic brain injury that happens when a baby is violently shaken. A baby has weak neck muscles and a large, heavy head. Shaking makes the fragile brain bounce back and forth inside the skull and causes bruising, swelling, and bleeding, which can lead to permanent, severe brain damage or death. The characteristic injuries of shaken baby syndrome are subdural hemorrhages (bleeding in the brain), retinal hemorrhages (bleeding in the retina), damage to the spinal cord and neck, and fractures of the ribs and bones. These injuries may not be immediately noticeable. Symptoms of shaken baby syndrome include extreme irritability, lethargy, poor feeding, breathing problems, convulsions, vomiting, and pale or bluish skin. Shaken baby injuries usually occur in children younger than 2 years old, but may be seen in children up to the age of 5.
Shingles - (herpes zoster) is an outbreak of rash or blisters on the skin that is caused by the same virus that causes chickenpox - the varicella-zoster virus. The first sign of shingles is often burning or tingling pain, or sometimes numbness or itch, in one particular location on only one side of the body. After several days or a week, a rash of fluid-filled blisters, similar to chickenpox, appears in one area on one side of the body. Shingles pain can be mild or intense. Some people have mostly itching; some feel pain from the gentlest touch or breeze. The most common location for shingles is a band, called a dermatome, spanning one side of the trunk around the waistline. Anyone who has had chickenpox is at risk for shingles. Scientists think that in the original battle with the varicella-zoster virus, some of the virus particles leave the skin blisters and move into the nervous system. When the varicella-zoster virus reactivates, the virus moves back down the long nerve fibers that extend from the sensory cell bodies to the skin.
Shy-Drager Syndrome - Multiple system atrophy with orthostatic hypotension is the current classification for a neurological disorder that was once called Shy-Drager syndrome. A progressive disorder of the central and autonomic nervous systems, it is characterized by orthostatic hypotension (an excessive drop in blood pressure when standing up) which causes dizziness or fainting. Multiple system atrophy can occur without orthostatic hypotension, but it is rare. Doctors classify the disorder into 3 types: the Parkinsonian-type includes symptoms of Parkinson's disease such as slow movement, stiff muscles, and tremor; the cerebellar-type, which causes problems with coordination and speech; and the combined-type, which includes symptoms of both parkinsonism and cerebellar failure. Problems with urinary incontinence, constipation, and sexual impotence in men happen early in the course of the disease. Other symptoms include generalized weakness, double vision or other vision disturbances, difficulty breathing and swallowing, sleep disturbances, and decreased sweating. Because the disease resembles others, a correct diagnosis may take years.
Sjogren's Syndrome - is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjogren's syndrome is also associated with rheumatic disorders such as rheumatoid arthritis. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren's syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain.
Sleep Apnea - is a common sleep disorder characterized by brief interruptions of breathing during sleep. These episodes usually last 10 seconds or more and occur repeatedly throughout the night. People with sleep apnea will partially awaken as they struggle to breathe, but in the morning they will not be aware of the disturbances in their sleep. The most common type of sleep apnea is obstructive sleep apnea (OSA), caused by relaxation of soft tissue in the back of the throat that blocks the passage of air. Central sleep apnea (CSA) is caused by irregularities in the brain's normal signals to breathe. Most people with sleep apnea will have a combination of both types. The hallmark symptom of the disorder is excessive daytime sleepiness. Additional symptoms of sleep apnea include restless sleep, loud snoring (with periods of silence followed by gasps), falling asleep during the day, morning headaches, trouble concentrating, irritability, forgetfulness, mood or behavior changes, anxiety, and depression.
Sleeping Sickness - or African trypanosomiasis is a parasitic disease in people and animals, caused by protozoa of genus Trypanosoma and transmitted by the tsetse fly. The disease is endemic in certain regions of Sub-Saharan Africa, covering about 36 countries and 60 million people. It is estimated that 50,000 to 70,000 people are currently infected, the number having declined somewhat in recent years.
Sotos Syndrome - is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by mild mental retardation, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. Symptoms of the disorder, which vary among individuals, include a disportionately large and long head with a slightly protrusive forehead, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and down-slanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically, familial cases have also been reported.
Spasticity - is a condition in which certain muscles are continuously contracted. This contraction causes stiffness or tightness of the muscles and may interfere with movement, speech, and manner of walking. Spasticity is usually caused by damage to the portion of the brain or spinal cord that controls voluntary movement. It may occur in association with spinal cord injury, multiple sclerosis, cerebral palsy, damage to the brain because of lack of oxygen, brain trauma, severe head injury, and metabolic diseases such as adrenoleukodystrophy, amyotrophic lateral sclerosis (Lou Gehrig's disease), and phenylketonuria. Symptoms may include hypertonicity (increased muscle tone), clonus (a series of rapid muscle contractions), exaggerated deep tendon reflexes, muscle spasms, scissoring (involuntary crossing of the legs), and fixed joints. The degree of spasticity varies from mild muscle stiffness to severe, painful, and uncontrollable muscle spasms.
Spinal Cord Infarction - is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a deposit or accumulation of lipid-containing matter forms within the arteries. Symptoms, which generally appear within minutes or a few hours of the infarction, may include intermittent sharp or burning back pain, aching pain down through the legs, weakness in the legs, paralysis, loss of deep tendon reflexes, loss of pain and temperature sensation, and incontinence.
Spinal Cord Injury - usually begins with a sudden, traumatic blow to the spine that fractures or dislocates vertebrae. The damage begins at the moment of injury when displaced bone fragments, disc material, or ligaments bruise or tear into spinal cord tissue. Most injuries to the spinal cord don't completely sever it. Instead, an injury is more likely to cause fractures and compression of the vertebrae, which then crush and destroy the axons, extensions of nerve cells that carry signals up and down the spinal cord between the brain and the rest of the body. An injury to the spinal cord can damage a few, many, or almost all of these axons. Some injuries will allow almost complete recovery. Others will result in complete paralysis.
Spinal Cord Tumors - Brain and spinal cord tumors are abnormal growths of tissue found inside the skull or the bony spinal column, which are the primary components of the central nervous system (CNS). Benign tumors are noncancerous, and malignant tumors are cancerous. The CNS is housed within rigid, bony quarters (i.e., the skull and spinal column), so any abnormal growth, whether benign or malignant, can place pressure on sensitive tissues and impair function. Tumors that originate in the brain or spinal cord are called primary tumors. Most primary tumors are caused by out-of-control growth among cells that surround and support neurons. In a small number of individuals, primary tumors may result from specific genetic disease (e.g., neurofibromatosis, tuberous sclerosis) or from exposure to radiation or cancer-causing chemicals. The cause of most primary tumors remains a mystery. They are not contagious and, at this time, not preventable. Symptoms of brain tumors include headaches, seizures, nausea and vomiting, vision or hearing problems, behavioral and cognitive problems, motor problems, and balance problems.
Spinocerebellar Atrophy - (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.
Spinocerebellar Degeneration - Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.
Stiff-Person Syndrome - (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Abnormal postures, often hunched over and stiffened, are characteristic of the disorder. People with SPS can be too disabled to walk or move, or they are afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Scientists don't yet understand what causes SPS, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord. The disorder is often misdiagnosed as Parkinson's disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia.
Striatonigral Degeneration - is a neurological disorder caused by a disruption in the connection between two areas of the brain-the striatum and the substantia nigra. These two areas work together to enable balance and movement. Striatonigral degeneration is a type of multiple system atrophy (MSA). Symptoms of the disorder resemble some of those seen in Parkinson's disease, including rigidity, instability, impaired speech, and slow movements.
Stroke - (CVA) is the rapidly developing loss of brain functions due to a disturbance in the blood vessels supplying blood to the brain. This can be due to ischemia (lack of blood supply) caused by thrombosis or embolism, or due to a hemorrhage.  In medicine, a stroke, fit, or faint is sometimes referred to as an ictus [cerebri], from the Latin icere ("to strike"), especially prior to a definitive diagnosis.
Sturge-Weber Syndrome - is a neurological disorder indicated at birth by seizures accompanied by a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face. Sturge-Weber syndrome is also accompanied by the loss of nerve cells and calcification of tissue in the cerebral cortex of the brain on the same side of the body as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be muscle weakness on the same side. Some children will have developmental delays and mental retardation; most will have glaucoma (increased pressure within the eye) at birth or developing later. The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). Sturge-Weber syndrome rarely affects other body organs.
SUNCT Headache - SUNCT-Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing-is a rare form of headache that is most common in men after age 50. The disorder is marked by bursts of moderate to severe burning, stabbing, or throbbing pain, usually on one side of the head and around the eye or temple. Attacks typically occur in daytime hours and last from 5 seconds to 4 minutes per episode. Patients generally have five to six attacks per hour.
Syncope - is the temporary loss of consciousness due to a sudden decline in blood flow to the brain. It may be caused by an irregular cardiac rate or rhythm or by changes of blood volume or distribution. Syncope can occur in otherwise healthy people. The patient feels faint, dizzy, or lightheaded (presyncope), or loses consciousness (syncope).
Syphilitic Spinal Sclerosis - Tabes dorsalis is a slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The degenerating nerves are in the dorsal columns of the spinal cord (the portion closest to the back of the body) and carry information that help maintain a person's sense of position. Tabes dorsalis is the result of an untreated syphilis infection. Symptoms may not appear for some decades after the initial infection and include weakness, diminished reflexes, unsteady gait, progressive degeneration of the joints, loss of coordination, episodes of intense pain and disturbed sensation, personality changes, dementia, deafness, visual impairment, and impaired response to light.
Syringomyelia - (sear-IN-go-my-EEL-ya) is a disorder in which a cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying a portion of the spinal cord from its center and expanding outward. When a syrinx widens enough to affect nerve fibers that carry information from the brain to the extremities, this damage results in pain, weakness, and stiffness in the back, shoulders, arms, or legs. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands. Each patient experiences a different combination of symptoms depending on where in the spinal cord the syrinx forms and how far it expands.
Tabes Dorsalis - a slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The degenerating nerves are in the dorsal columns of the spinal cord (the portion closest to the back of the body) and carry information that help maintain a person's sense of position.
Tardive Dyskinesia - a symptom caused by the long-term or high-dose use of dopamine antagonists, usually anti-psychotics, but also e.g. antiemetic metoclopramide. These neuroleptic drugs are generally prescribed for psychiatric disorders. Other dopamine antagonists that can cause tardive dyskinesia are drugs for gastrointestinal disorders (for example metoclopramide) and neurological disorders.
Tarlov Cysts - are fluid-filled sacs that most often affect nerve roots in the sacrum, the group of bones at the base of the spine. These cysts can compress nerve roots, causing lower back pain, sciatica (shock-like or burning pain in the lower back, buttocks, and down one leg to below the knee), urinary incontinence, sexual dysfunction, and some loss of feeling or control of movement in the leg and/or foot.
Tay-Sachs Disease - (TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease. TSD is inherited in an autosomal recessive pattern. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain.
Temporal Arteritis - also called giant cell arteritis (GCA) is an inflammatory disease of blood vessels (most commonly large and medium arteries of the head). It is therefore a form of vasculitis. The name comes from the most frequently involved vessel (temporal artery which branches from the external carotid artery of the neck). The alternative name (giant cell arteritis) reflects the type of inflammatory cell that is involved (as seen on biopsy).
Tethered Spinal Cord Syndrome - is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence.
Thomsen's Myotonia - is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present since early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.
Thoracic Outlet Syndrome - (TOS) consists of a group of distinct disorders that affect the nerves in the brachial plexus (nerves that pass into the arms from the neck) and the subclavian artery and vein blood vessels between the base of the neck and axilla (armpit).
Thyrotoxic Myopathy - is a neuromuscular disorder that may accompany hyperthyroidism (Graves' disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness, wasting of the pelvic girdle and shoulder muscles, fatigue, and heat intolerance. Muscle breakdown may occur in acute cases. Physical acts such as climbing stairs may be difficult. Patients may develop muscle damage to the eyes and eyelids, which may affect mobility of the eye muscles, and temporary, but severe, attacks of muscle weakness known as periodic paralysis.
Tic Douloureux - also known as Trigeminal neuralgia (TN), is a chronic pain condition that causes extreme, sporadic, sudden burning or shock-like face pain that lasts anywhere from a few seconds to as long as 2 minutes per episode. The intensity of pain can be physically and mentally incapacitating. TN pain is typically felt on one side of the jaw or cheek. Episodes can last for days, weeks, or months at a time and then disappear for months or years.
Todd's Paralysis - (or postictal paresis/paralysis, "after seizure") is focal weakness in a part of the body after a seizure. This weakness typically affects appendages and is localized to either the left or right side of the body. It usually subsides completely within 48 hours. Todd's paresis may also affect speech, eye position (gaze) or vision.
Tourette Syndrome - (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The early symptoms of TS are almost always noticed first in childhood, with the average onset between the ages of 7 and 10 years. TS occurs in people from all ethnic groups; males are affected about three to four times more often than females. Tics are classified as either simple or complex. Simple motor tics are sudden, brief, repetitive movements that involve a limited number of muscle groups. Some of the more common simple tics include eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking. Simple vocalizations might include repetitive throat-clearing, sniffing, or grunting sounds.
Transient Ischemic Attack - (TIA) is a transient stroke that lasts only a few minutes. It occurs when the blood supply to part of the brain is briefly interrupted. TIA symptoms, which usually occur suddenly, are similar to those of stroke but do not last as long. Most symptoms of a TIA disappear within an hour, although they may persist for up to 24 hours. Symptoms can include: numbness or weakness in the face, arm, or leg, especially on one side of the body; confusion or difficulty in talking or understanding speech; trouble seeing in one or both eyes; and difficulty with walking, dizziness, or loss of balance and coordination.
Transmissible Spongiform Encephalopathies - (TSEs, also known as prion diseases) are a group of progressive conditions that affect the brain and nervous system of humans and animals and are transmitted by prions. Mental and physical abilities deteriorate and myriad tiny holes appear in the cortex causing it to appear like a sponge (hence 'spongiform') when brain tissue obtained at autopsy is examined under a microscope. The disorders cause impairment of brain function, including memory changes, personality changes and problems with movement that worsen over time.
Transverse Myelitis - is a neurological disorder caused by inflammation across both sides of one level, or segment, of the spinal cord. The term myelitis refers to inflammation of the spinal cord; transverse simply describes the position of the inflammation, that is, across the width of the spinal cord.
Traumatic Brain Injury - (TBI), traumatic injuries to the brain, also called intracranial injury, or simply head injury, occurs when a sudden trauma causes brain damage. TBI can result from a closed head injury or a penetrating head injury and is one of two subsets of acquired brain injury (ABI). The other subset is non-traumatic brain injury (e.g. stroke, meningitis, anoxia). Parts of the brain that can be damaged include the cerebral hemispheres, cerebellum, and brain stem. TBI can cause a host of physical, cognitive, emotional, and social effects. Anyone with signs of moderate or severe TBI should receive medical attention as soon as possible. Because little can be done to reverse the initial brain damage caused by trauma, medical personnel try to stabilize an individual with TBI and focus on preventing further injury. Primary concerns include insuring proper oxygen supply to the brain and the rest of the body, maintaining adequate blood flow, and controlling blood pressure. Imaging tests help in determining the diagnosis and prognosis of a TBI patient.
Tremor - is an unintentional, somewhat rhythmic, muscle movement involving to-and-fro movements (oscillations) of one or more parts of the body. It is the most common of all involuntary movements and can affect the hands, arms, head, face, vocal cords, trunk, and legs. Most tremors occur in the hands. In some people, tremor is a symptom of another neurological disorder. There is no cure for most tremors. The appropriate treatment depends on accurate diagnosis of the cause. Drug treatment for parkinsonian tremor involves levodopa or dopamine-like drugs such as pergolide mesylate, bromocriptine mesylate, and ropinirole. Essential tremor may be treated with propranolol or other beta blockers (such as nadolol) and primidone, an anticonvulsant drug.
Trigeminal Neuralgia - (TN), or Tic Douloureux, ( also known as prosopalgia ) is a neuropathic disorder of the trigeminal nerve that causes episodes of intense pain in the eyes, lips, nose, scalp, forehead, and jaw. Trigeminal neuralgia is considered by many to be among the most painful of conditions and is often labeled the "suicide disease" because of the significant numbers of people taking their own lives when they cannot find effective treatments.
Tropical Spastic Paraparesis - (TSP) has been used to describe a chronic and progressive disease of the nervous system that affects adults living in equatorial areas of the world and causes progressive weakness, stiff muscles, muscle spasms, sensory disturbance, and sphincter dysfunction.
Troyer Syndrome - is one of about 30 neurological disorders known as the hereditary spastic paraplegias. It is characterized by progressive muscle weakness and spasticity in the legs. Additional symptoms include leg contractures, difficulty walking, speech disorders, drooling, atrophy of the hand muscles, mild developmental delays, fluctuating emotions, and short stature. Onset is in early childhood
Tuberous Sclerosis - or tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease. TSC is caused by mutations on either of two genes, TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively.
Vasculitis including Temporal Arteritis - Vasculitis is an inflammation of the vascular system, which includes the veins, arteries, and capillaries. Dysfunction may occur due to the inflammation itself or over time as the blood vessel walls swell, harden, thicken, and develop scar tissue. This narrows the passage through which blood can flow. As the condition progresses, it can slow or completely stop the normal flow of blood. Vasculitis can cause problems in any organ system, including the central (CNS) and peripheral (PNS) nervous systems.
Von Economo's Disease - or Encephalitis lethargica (EL) is a form of encephalitis. Also known as sleeping sickness (different from the sleeping sickness transmitted by the tsetse fly), EL is a devastating illness that swept the world in the 1920s and then vanished as quickly as it had appeared. EL attacks the brain, leaving some victims in a statue-like condition, speechless and motionless. Between 1917 and 1928, an epidemic of encephalitis lethargica spread throughout the world, but no recurrence of the epidemic has since been reported, though isolated cases continue to occur.
Von Hippel-Lindau Disease (VHL) - (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas (or angiomas in the eye). Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas.
Von Recklinghausen's Disease - or Neurofibromatosis 1 (NF1) is characterized by spots of increased skin pigmentation combined with peripheral nerve tumors and a variety of others dysplastic abnormalities of the skin, nervous system, bones, endocrine organs and blood vessels. The peripheral nerve tumors of two types, schwannomas and neurofibromas. Both types of tumor occasionally become malignant.
Wallenberg's Syndrome - Also called Lateral medullary syndrome and posterior inferior cerebellar artery syndrome, is a disease in which the patient has difficulty with swallowing or speaking or both owing to one or more patches of dead tissue caused by interrupted blood supply to parts of the brain. This syndrome is characterized by sensory deficits affecting the trunk and extremities on the opposite side of the infarct and sensory and motor deficits affecting the face and cranial nerves on the same side with the infarct. Other clinical symptoms and findings are ataxia, facial pain, vertigo, nystagmus, Horner's syndrome, diplopia and dysphagia.
Werdnig-Hoffman Disease - (also known as "Infantile spinal muscular atrophy", "spinal muscular atrophy type 1", or "spinal muscular atrophy type I") is an autosomal recessive muscular disease. It is the most severe form of spinal muscular atrophy. Werdnig-Hoffman affects the lower motor neurons only. It has been linked to an abnormal survival motor neuron (SMN) gene. It is evident before birth or within the first few months of life. There may be a reduction in fetal movement in the final months of pregnancy. Symptoms include floppiness of the limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Affected children never sit or stand unassisted and will require respiratory support to survive before the age of 2.
Wernicke-Korsakoff Syndrome - Wernicke's encephalopathy is a degenerative brain disorder caused by the lack of thiamine (vitamin B1). It may result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. Symptoms include mental confusion, vision impairment, stupor, coma, hypothermia, hypotension, and ataxia. Korsakoff's amnesic syndrome-a memory disorder-also results from a deficiency of thiamine, and is associated with alcoholism.
West Syndrome - otherwise known as infantile spasms, is an uncommon to rare and serious form of epilepsy in infants. The syndrome is age-related, generally occurring between the third and the twelfth month, generally manifesting around the fifth month. There are various causes ("polyetiology"). The syndrome is often caused by an organic brain dysfunction whose origins may be prenatal, perinatal (caused during birth) or postnatal. Lots of different brain disorders create the same symptom of West Syndrome.
Whiplash - is the common name for neck sprains, such as those caused by hyper extension/flexion injury to the cervical, thoracic or lumbar spines. The injury is referred to as "whiplash" due to the neck or back being thrown forwards and/or backwards at a rapid speed. This may cause the fibers of the neck muscles to tear, resulting in pain and often a decreased range of movement.
Whipple's Disease - is a rare infectious disease that typically infects the bowel. It causes malabsorption primarily but may affect any part of the body including the heart, lungs, brain, joints, and eyes. It interferes with the body's ability to absorb certain nutrients. Whipple's disease causes weight loss, incomplete breakdown of carbohydrates or fats, and malfunctions of the immune system. When recognized and treated, Whipple's disease can usually be cured. Untreated, the disease may be fatal.
Williams Syndrome - (Williams-Beuren syndrome) is a rare genetic disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers, coupled with unpredictably occurring negative outbursts, mental retardation coupled with unusual language skills, a love for music, and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia.
Wilson's Disease - (WD) is a rare inherited disorder in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the kidneys, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder appear later in life. The most characteristic symptom of WD is the Kayser-Fleisher ring - a rusty brown ring around the cornea of the eye. WD requires lifelong treatment, generally using drugs to remove excess copper from the body and to prevent it from re- accumulating.
Wolman's Disease - (also known as Wolman's syndrome, and acid lipase deficiency) is a rare lipid storage disease that is usually fatal at a very young age. Infants may be normal and active at birth but quickly develop progressive mental deterioration, hepatosplenomegaly, distended abdomen, gastrointestinal problems including steatorrhea, jaundice, anemia, vomiting and calcium deposits in the adrenal glands, causing them to harden.
X-Linked Spinal and Bulbar Muscular Atrophy - Also known as Kennedy disease, named after WR Kennedy, a neurologist who was among the first to describe this disease. Spinal and bulbar muscular atrophy is a disorder of specialized nerve cells that control muscle movement (motor neurons) that usually begins in adulthood and worsens slowly over time. This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. Early signs often include weakness of tongue and mouth muscles, fasciculations, and gradually increasing weakness of limb muscles with muscle wasting. In some cases, premature muscle fatigue begins in adolescence. Neuromuscular management is supportive, and the disease progresses very slowly and often does not lead to extreme disability. Ages of onset and severity of manifestations in affected males vary from adolescence to old age, but most commonly develop in middle adult life. The latest onset was described in a male of 84 years of age. KD does not usually compromise longevity. The syndrome has neuromuscular and endocrine manifestations It has been suggested that some men with KD may be misdiagnosed to have amyotrophic lateral sclerosis (ALS, also Lou Gehrig's disease).
Zellweger Syndrome - (Named after Hans Zellweger, a former professor of Pediatrics and Genetics at the University of Iowa who did research into the disease.) is one of a group of four related diseases called peroxisome biogenesis disorders (PBD), which are part of a larger group of diseases known as the leukodystrophies. These are inherited conditions that damage the white matter of the brain and also affect how the body metabolizes particular substances in the blood and organ tissues. Zellweger syndrome is the most severe of the PBDs. Infantile Refsum disease (IRD) is the mildest, and neonatal adrenoleukodystrophy and rhizomelic chondrodysplasia have similar but less severe symptoms. There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive. The prognosis for individuals with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure.
Nearly 1 in 6 of world's population suffer from neurological disorders (UN)
More than 50 million people have epilepsy worldwide.
The prevalence of migraine is more than 10% worldwide.
The US National Institute for Neurological Disorders and Stroke (NINDS) estimated in a 2006 report that about 50,000 new cases of Parkinson's disease are diagnosed in the US each year, and the total number of cases in the US is at least 500,000.
Despite the fact that highly effective, low-cost treatments are available, as many as nine out of 10 people suffering from epilepsy in Africa go untreated.
Many brain disorders are chronic and incurable conditions whose disabling effects may continue for years or even decades.
In its 2012 annual report, the Alzheimer's Association (AA) estimates that 5.4 million people in the US have Alzheimer's disease (AD). By 2050, the AA estimates that between 11 million and 16 million Americans will have the disease, with one new case appearing every 33 seconds.
As the global population ages, the impact of neurological disorders will be felt both in developed and developing countries, reaching a significant proportion in countries with a growing percentage of the population over 65 years.
In Europe it has been estimated that 35% of all disease burden is attributable to brain disorders (Olesen & Leonardi 2003).
The US National Institute of Mental Health (NIMH) estimates that about 1 in 4 American adults suffer from a diagnosable mental disorder in any given year, with nearly 6% suffering serious disabilities as a result.
Approximately 6.2 million people die because of stroke each year.
Alzheimer's disease is the most common cause of dementia and may contribute to 60 to 70% of cases.
It is estimated that there are globally 35.6 million people with dementia with 7.7 million new cases every year.
The World Health Organization reports that various types of neurological disorders affect millions of people around the world, including 24 million that suffer from Alzheimer's disease and 326 million who experience migraines.
Human Spinal Cord Picture C1 to S5 Vertebra The human spinal cord consists of nerves that connect the brain to nerves in the body. It is a superhighway for messages between the brain and the rest of the body. The spinal cord is surrounded for most of its length by the bones (vertebrae) that form the spine.