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Glossary for Nervous system conditions

  • 2-methylglutaconic aciduria type 3:
  • ADANE: A potentially fatal inherited neurological disease involving brain lesions. Symptoms tend to occur during childhood after an illness involving a fever. The disease is similar to Leigh syndrome but the course is acute rather than chronic.
  • ADD: Attention Deficit Disorder (ADD) is a mental and behavioral disorder characterized by behavioral problems such as hyperactivity, inattention, concentration difficulty, and other mental symptoms. The related description Attention Deficit Hyperactivity Disorder (ADHD) may be a more modern description of the disease.

    Misdiagnosis of ADD is a well-known controversy in the sense that cases of hyperactivity in children may be over-diagnosed. There is a tendency for parents to seek and doctors to prescribe the drug Ritalin even in cases where the diagnosis of ADD or ADHD may be incorrect. Alternative diagnoses include normal child behavior (i.e. just an active child), food intolerances, or other behavioral disorders (see misdiagnosis of ADD).

    On the other hand, ADD is under-diagnosed in adults, with a large number of adults having ADD without knowing it; see misdiagnosis of Adult ADD.

  • ADHD: Attention Deficit Hyperactivity Disorder (ADHD) is a mental and behavioral disorder characterized by behavioral problems such as hyperactivity, inattention, concentration difficulty, and other mental symptoms. Typically, ADHD and associated hyperactivity is known as a childhood disorder, although ADD/ADHD in adults is known to be under-diagnosed. It is distinguished from Attention Deficit Disorder (ADD) which has a reduced focus on hyperactivity type symptoms.
  • AIDS Dementia Complex: A brain disorder that occurs in AIDS patients.
  • ARCA: A group of recessively inherited neurological disorders characterized mainly by cerebellar ataxia and usually with other additional abnormalities.
  • Abdominal nerve entrapment: A condition where and abdominal nerve becomes trapped and compressed which causes localized abdominal pain. The major causes are straining the abdominal muscles, coughing or occurs after surgery when the abdominal muscles are required to be pulled out of place.
  • Abdominal seizure: A type of simple partial seizure where abnormal electrical activity in a part of the brain that control autonomic functions results in episodes of abdominal symptoms such as vomiting and nausea.
  • Absence of septum pellucidum: The absence of the thin membrane that separates the two halves of the brain. The defect itself is not a disorder but is usually observed as a characteristic of a condition called septo-optic dysplasia which also involves optic nerve and pituitary abnormalities.
  • Absence of septum pellucidum and septo-optic dysplasia: A rare birth defect where a thin membrane in the middle of the brain is missing. This brain abnormality is never present on it's own but is a characteristic of septo-optic dysplasia where the patient also has optic disk abnormalities and pituitary deficiencies.
  • Absence of septum pellucidum with porencephalia syndrome: A rare syndrome present at birth and characterized by the absence of the thin membrane in the middle of the brain (septum pellucidum) as well as abnormal cavities in the brain (porencephaly). The syndrome also involves other structural brain abnormalities.
  • Absence seizure: Abnormal electrical activity in the brain resulting in a brief (10 - 30 seconds) alteration of consciousness. This type of seizure is more common in children. Seizures can occur a number of times in a day. The patient may or may not be aware that they have suffered a seizure.
  • Absent corpus callosum -- cataract -- immunodeficiency: A rare syndrome characterized by immunodeficiency, cleft lip or palate, cataract, reduced pigmentation and brain abnormalities.
  • Absolute Glaucoma: The final stage of blindness in glaucoma in which a glaucoma-induced increase in intraocular pressure results in permanent vision loss.
  • Acanthamoeba infection of the central nervous system: Infection by an amoebic organism called Acanthamoeba. Infection usually occurs when the amoeba enters through a break in the skin or through the nose. Infection can be localized or systemic where it can involve the central nervous system and cause potentially fatal meningoencephalitis. Infection of the eye can occur by cleaning contact lenses in contaminated water.
  • Accessory deep peroneal nerve: An extra nerve in the leg that some people have. The accessory peroneal nerve branches off from the peroneal nerve and provides additional innervations for the foot muscles. The anomaly poses no problems and is asymptomatic but may be noticed if nerve conduction tests are done on the leg nerves.
  • Aceruloplasminemia: A rare, recessively inherited neurodegenerative disorder characterized by a lack of ceruloplasmin in the blood. The lack of ceruloplasmin results in abnormal iron use in the body and leads to iron deposits in various body tissues such as the brain, pancreas and liver. The iron overload results a neurodegeneration (ataxia, dementia and extrapyramidal disorders) and diabetes. Patients with only a partial absence of ceruloplasmin are often asymptomatic.
  • Achalasia -- adrenal -- alacrima syndrome: A familial disorder characterized by adrenal gland-related hormonal problems, swallowing difficulty (achalasia) and a lack of tears (alacrima). Neurological impairment and motor and sensory neuropathy is progressive. The adrenal glands in patients are resistant to the ACTH hormone and hence fails to operate normally.
  • Acoustic Neurinoma: A benign tumor of the 8th cranial nerve which lies in the tube connecting the inner ear to the brain.
  • Acoustic neuroma: A benign tumor of the 8th cranial nerve which lies in the tube connecting the inner ear to the brain.
  • Acquired Synesthesia: Synesthesia is a relatively common perceptual anomaly where a stimulus of one of the senses (e.g. hearing) results in an experience or sensation in another sensory modality or an unusual perception in the same sensory modality. The neurological anomaly is involuntary and there are a range of theories that attempt to explain the etiology of the condition. Synesthesia may be idiopathic (developmental) or acquired e.g. the use of certain drugs such as LSD may produce synesthesia. There is a wide range of possible perceptual anomalies. Other examples include:
    • perceiving months or weekdays as a color
    • perceiving months or weekdays as a particular spatial location e.g. July is always located 2 metres in front of you
    • perceiving a sound as a particular color e.g. a microwave beep is perceived as orange
    • particular words can trigger a specific taste in the mouth
    • smelling things can result in the sensation of touch - e.g. smelling a flower can feel like touching cold glass
    • pain perceived as a particular color
    • and many others.
  • Acrocallosal Syndrome (Schinzel Type): A rare condition characterized by absence of portion of the brain (corpus callosum), mental deficiency, duplicated toes, mental deficiency and other abnormalities.
  • Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
  • Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrodynia: Symptoms caused by chronic mercury poisoning in infants in children.
  • Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
  • Acromelic frontonasal dysplasia: A very rare genetic malformation syndrome characterized by developmental abnormalities of the face and brain.
  • Acroosteolysis neurogenic: A very rare inherited condition characterized mainly by the loss of all sensations - the lose the ability to feel pain, temperature and touch. The loss of sensation generally starts at the toes and fingers and spreads up the limbs and the trunk may also be involved in some cases.
  • Acroparesthesia syndrome: A condition involving episodes of paresthesia (tingling, numbness and stiffness) mainly in the lower arms and hands. It most often occurs in middle-aged women.
  • Acute Angle Closure Glaucoma: Primary angle closure is defined as an occludable drainage angle and features indicating that trabecular obstruction by the peripheral iris has occurred (ie, peripheral anterior synechiae, increased IOP, lens opacities, excessive trabecular pigmentation deposits).
  • Acute Bokhoror: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Disseminated Encephalomyelitis: A rare neurological disorder where an inflammation of the brain and spinal cord occurs due to damage to the protective covering (myelin sheath) around the nerves.
  • Acute VE: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Viliuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Viliuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Vilyuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Vilyuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute cholinergic dysautonomia: A rare condition characterized by the presence of abnormal red blood cells in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms than the chronic form.
  • Acute headache: Headache, or cephalgia, is defined as diffuse pain in various parts of the head, with the pain not confined to the area of distribution of a nerve.
  • Acute hemorrhagic leukoencephalitis: A rare brain disease involving destruction of blood vessel walls, hemorrhages and swelling in the brain. The disease may be associated with a virus or vaccination. The disease can progress rapidly and death is common but treatment can result in complete recovery in some cases.
  • Acute idiopathic polyneuritis: A rare progressive form of ascending polyneuropathy believed to be an autoimmune response.
  • Acute meningitis: Acute meningitis is an inflammation of the brain that presents in an acute fashion. The inflammation may be the result of infective agents such as bacteria, viruses and fungi as well as non-infective agents such as certain drugs. Acute forms of meningitis can develop in within hours or days whereas chronic meningitis develops over weeks or months.
  • Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma: Sudden hearing loss caused by such things as very loud noise (such as an explosion) or surgery.
  • Addington disease: An epidemic disease which resembles polio and was first recorded in South Africa. The range and severity of symptoms experienced is variable and the disease may persist from a week to 3 months in some cases.
  • Adie syndrome: A rare condition where the pupil of the eye is dilated and reacts very slowly to light and other stimulus. Knee and ankle reflexes are also impaired.
  • Adies Syndrome: A neurological process by which one/both pupils are dilated and do not respond/constrict appropriately when stimulated with light.
  • Adrenoleukodystrophy: A rare disorder which has characteristic symptoms of Addison disease (adrenocortical insufficiency) and Schilder disease (cerebral sclerosis). Bronze skin, brain sclerosis and demyelination are the main symptoms.
  • Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
  • Adrenomyeloneuropathy: A form of X-linked adrenoleukodystrophy characterized by spinal cord dysfunction and brain involvement may or may not be present. Those with brain involvement suffer serious symptoms that can eventually lead to total disability and even death.
  • Adult ADD: Attention Deficit Disorder (ADD) is a mental disorder with symptoms such as hyperactivity, inattention, poor concentration, and other similar symptoms. The disorder is called "ADHD" in modern times; see more details about Adult ADHD.

    ADD can be undiagnosed into adulthood and the adult will have varying levels of dysfunction in their work, home and social lives. Affected adults have issues with as difficulting focusing on work tasks, boredom, distractedness, and so on. See symptoms of Adult ADHD.

  • Adult ADHD: Adult ADHD, (attention deficit hyperactivity disorder) is a common neurobehavioral developmental disorder with an onset in childhood that continues into adulthood. Children do not simply grow out of ADHD, as is often believed. Just the opposite is commonly true - the symptoms of ADHD often get worse as a child grows into adulthood. The predominant behaviors of adult ADHD are the same as in children and include:
    • Inattentiveness
    • Hyperactivity
    • Impulsivity

    These behaviors result in difficulties with:

    • Concentration
    • Remaining focused on a task or activity
    • Controlling behavior
    • Hyperactivity or over-activity

    The symptoms of adult ADHD can be treated, but there currently is no cure for the disorder. Most people with ADHD can be successfully treated and lead normal, productive lives at home, work, school and with friends and family. The cause or causes of ADHD are not yet known, although researchers believe that genes may be one factor in the development of the disease. It is most likely that the disorder is the result of a combination of elements, including environmental factors, traumatic head injuries, nutrition, and social influences.

  • Adult Polyglucosan Body Disease: A condition which is a glycogen storage disease causing hepatosplenomegaly and failure to thrive
  • Adult SMA: Form of Spinal Muscular Atrophy in adults.
  • Adult low grade infiltrative supratentorial Astrocytoma: A type of brain cancer that occurs in the supratentorial region of the brain of adults and is relatively non-aggressive.
  • Adult progressive spinal muscular atrophy, Aran Duchenne type: A group of inherited motor neuron diseases involving progressive muscle weakness, wasting and paralysis due to degeneration of motor neurons in the spinal cord. Muscle weakness and wasting usually starts in the hands and may gradually spread to other muscle groups.
  • Adult-onset ALD: Form of ALD in adults.
  • Adversive syndrome: A rare condition where the patient turns compulsively when trying to move forwards. It can be caused by damage to a part of the brain called the Brodmann's area, neurosurghery, brain tumor or other brain lesions.
  • Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agenesis of the corpus callosum: Congenital absence of connective part of the brain.
  • Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
  • Aging brain syndrome: Aging processes in the brain can cause various psychological and neurological symptoms.
  • Agnathia-holoprosencephaly-situs inversus: A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable.
  • Agnosia: Agnosia is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
  • Agyria: A condition which is characterized by the malformation or absence of the convolutions of the cerebral cortex
  • Agyria pachygyria polymicrogyria: A very rare disorder characterized by abnormal brain development.
  • Agyria-pachygyria type 1: Abnormal brain development where the brain fails to develop normally during the fetal stage.
  • Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
  • Aicardi-Goutieres syndrome: A rare inherited progressive disease that affects the brain and immune system.
  • Aicardi-Goutieres syndrome 1: A rare inherited progressive disease that affects the brain and immune system. Type 1 is caused by a defect on chromosome 3p21.3-p21.2.
  • Aicardi-Goutieres syndrome 2: A rare inherited progressive disease that affects the brain and immune system. Type 2 is caused by a defect on chromosome 13q14-q21.
  • Aicardi-Goutieres syndrome 3: A rare inherited progressive disease that affects the brain and immune system. Type 3 is caused by a defect on chromosome 11q13.2.
  • Aicardi-Goutieres syndrome 4: A rare inherited progressive disease that affects the brain and immune system. Type 4 is caused by a defect on chromosome 19p13.13.
  • Aicardi-Goutieres syndrome 5: A rare inherited progressive disease that affects the brain and immune system. Type 5 is caused by a defect on chromosome 3p21.3-p21.2.
  • Akathisia: Specific type of feeling of restlessness or anxiety (usually from medications)
  • Akinetic mutism: Damage to parts of the brain (e.g. demyelinization and hydrocephalus) which results in a person being unable to talk or move despite the fact that they appear alert at times.
  • Albinism ocular late onset sensorineural deafness: A rare inherited condition characterized by a lack of eye pigmentation and deafness that usually starts in middle-age. Severity of symptoms is variable.
  • Alcock syndrome: A nerve disorder which causes pain in the pelvic, genital and perianal areas.
  • Alcoholic Neuropathy: Neurological changes due to nerve damage from long-term alcohol consumption
  • Alcoholic cerebellar degeneration: Cerebellar degeneration is a disease process in which the neurons in the cerebellum- the area of the brain that controls muscle co-ordination and balance- deteriorate and die.
  • Alcoholic polyneuropathy: A condition where damage to many peripheral nerves throughout the body results from excessive alcohol consumption. The sensory nerves tend to be affected more than the motor nerves and the legs are usually more affected than the arms.
  • Alexander Syndrome: Brain myelin disorder causing mental degeneration.
  • Alien hand syndrome: A condition where a person seems to have no sense of association with their own hand. They feel that the hand is not under their control and moves on its own. Sometimes the patient may be unaware of the hands movements unless it is brought to their attention. The condition can result from a brain injury, stroke or infection or from brain surgery.
  • Allergic encephalomyelitis: An autoimmune brain and spinal cord disease that can be induced in laboratory animals in experimental settings. The disease involves inflammation and degeneration of nerve myelin sheaths and it may be acute or chronic.
  • Alopecia, epilepsy, oligophrenia syndrome of Moynahan: A rare condition characterized by alopecia, epilepsy, mental retardation and a small head.
  • Alopecia, epilepsy, pyorrhea, mental subnormality: A rare syndrome characterized by alopecia, epilepsy, mental retardation and pus-producing gum and tooth inflammations.
  • Alopecia, mental retardation and neurological problems: A rare, newly described syndrome characterized by baldness, mental retardation and neurological problems.
  • Alternating Hemiplegia: Episodes of one-sided paralysis.
  • Alternating hemiplegia of childhood: A rare neurological disorder involving paralysis on one side of the body that is only temporary but occurs often. The extent of the paralysis is variable.
  • Alzheimer disease 10: An inherited form of Alzheimer's. Type 10 is caused by a genetic defect on chromosome 10p13.
  • Alzheimer disease 12: An inherited form of Alzheimer's. Type 12 is caused by a genetic defect on chromosome 8p12-q22.
  • Alzheimer disease 13: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 14: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q25. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 15: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 3q22-q24. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 16: Alzheimer disease 16 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome Xq21.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 2, late-onset: Alzheimer disease 2 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome 19q13.2. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 3, (early-onset Alzheimer disease): Alzheimer disease 3 is an early-onset form of Alzheimer's disease that is linked to a defect on chromosome 14q24.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 5: An inherited form of Alzheimer's. Type 5 has a late onset and is caused by a genetic defect on chromosome 12p11.
  • Alzheimer disease 6: A genetic form of Alzheimer's. Type 6 has a late onset and is caused by a genetic defect on chromosome 10q24.
  • Alzheimer disease 7: An inherited form of Alzheimer's. Type 7 is caused by a genetic defect on chromosome 10p13.
  • Alzheimer disease 8: An inherited form of Alzheimer's. Type 8 is caused by a genetic defect on chromosome 20p.
  • Alzheimer disease 9: A genetic form of Alzheimer's. Type 9 has a late onset and is caused by a genetic defect on chromosome 19p13.2.
  • Alzheimer disease type 1: A degenerative brain disease characterized primarily by progressive dementia. Type 1 has an early onset (starts before the age of 65). It is caused by mutations in the APP gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Alzheimer disease type 2: A degenerative brain disease characterized primarily by progressive dementia. Type 2 has a late onset - starts after the age of 65. It is believed to be caused by a combination of genetic mutations and environmental and lifestyle factors. The condition occurs when there is excessive production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Alzheimer disease type 4: A degenerative brain disease characterized primarily by progressive dementia. Type 4 has an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Alzheimer disease, early-onset, with cerebral amyloid angiopathy: An early-onset form of Alzheimer's disease that is linked to a defect on chromosome 21q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial: A degenerative brain disease characterized primarily by progressive dementia. The familial form is very rare and is completely inherited and has an early onset (usually in the 4th decade). It occurs when there is excessive production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Alzheimer disease, familial, 1: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 21q. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 11: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 9p22.1. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 4: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q31-q42. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, type 3: A degenerative brain disease characterized primarily by progressive dementia. Type 3 has an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Alzheimer's Disease: Dementia-causing brain disease mostly in seniors and the elderly.
  • Alzheimer's disease without Neurofibrillary tangles: A form of Alzheimer's that involves only plaques and no neurofibrillary tangles. This form tends to have an older age of onset and death and a shorter disease duration.
  • Amelo-cerebro-hypohidrotic syndrome: A rare syndrome involving degeneration of the central nervous system, seizures and abnormal tooth development.
  • Amyloid Neuropathies: A peripheral nerve disorder caused by abnormal amyloid deposits in the nerves. Sensory, autonomic or motor nerves may be affected. The degree of nerve involvement, and hence symptoms, are variable.
  • Amyloidosis VII: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Ohio type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages as well as vision impairment.
  • Amyloidosis, cerebroarterial, hereditary, Iowa type: An inherited form of amyloidosis caused by a defect in the APP gene on chromosome 21q21. Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this form, the deposits affect the brain arteries.
  • Amyloidosis, cerebroarterial, hereditary, Italian type: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Italian type, the amyloid deposits affect the brain blood vessels and cause hemorrhages.
  • Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
  • Amyotrophic lateral sclerosis: A motor neuron disease involving progressive degeneration and eventual destruction of the function of nerves that control voluntary movement.
  • Amyotrophic lateral sclerosis 2, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 2 is caused by a defect on chromosome 2q33.
  • Amyotrophic lateral sclerosis 3: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 3 is caused by a defect on chromosome 18q21.
  • Amyotrophic lateral sclerosis 4, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 4 is caused by a defect on chromosome 9q34.
  • Amyotrophic lateral sclerosis 5: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 5 is caused by a defect on chromosome 15q15.1-q21.1.
  • Amyotrophic lateral sclerosis 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Amyotrophic lateral sclerosis 7: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 7 is caused by a defect on chromosome 20p13.
  • Amyotrophic lateral sclerosis 8: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 9 is caused by a defect on chromosome 20q13.3 and is a dominantly inherited, late-onset form.
  • Amyotrophic lateral sclerosis type 1:
  • Amyotrophic lateral sclerosis, 11: An inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 11 is differentiated by the origin of the genetic defect involved (6q21).
  • Amyotrophic lateral sclerosis, 9: An inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 9 is differentiated by the origin of the genetic defect involved (14q11).
  • Amyotrophic lateral sclerosis, familial:
  • Amyotrophic lateral sclerosis, familial type 1: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 1 is characterized by adult onset and relatively fast progression of symptoms. It usually occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 2: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 2 is characterized by childhood or adolescent onset of symptoms which progress very slowly over decades. It occurs in an autosomal recessive pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 3: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 3 is characterized late adulthood onset of symptoms which progress slowly over 5 years. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 4: A generally fatal progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 4 is characterized by the onset of symptoms before the age of 25 and slow progression over the next few decades. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 5: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adolescent onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal recessive pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 6: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adult onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 7: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 7 is characterized adult onset of symptoms with progression varying between less than 5 years to several decades. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 8: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 8 is characterized by adult onset and relatively slow progression of symptoms. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, type 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex: A nerve degeneration disorder that involves progressive dementia and parkinsonism which ultimately leads to death.
  • Amyotrophic lateral sclerosis-parkinsonism/dementia complex 2: A nerve degeneration disorder that involves progressive dementia and parkinsonism which ultimately leads to death.
  • Amyotrophy, neurogenic scapuloperoneal, New England type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The exact symptoms that occur may vary from patient to patient with males often being more affected than females. An interesting observation of this condition is that symptoms and rate of progression tends to be more severe with each passing generation.
  • Andrade's syndrome: An inherited condition characterized by deposits of an abnormal protein called amyloid in various parts of the body including organs. The condition mainly involves neurological symptoms.
  • Anemia, sideroblastic spinocerebellar ataxia: A rare inherited condition characterized by anemia at birth as well as spinocerebellar ataxia (impaired ability to control voluntary movements).
  • Anencephaly: A birth defect where most or all of the brain is missing - most die before birth. Usually the associated portions of skull and other tissue are also missing.
  • Anencephaly and spina bifida X-linked: A severe X-linked malformation syndrome involving anencephaly where a part or all of the brain and associated skull is missing as well as a defect or opening in the spinal column.
  • Aneurysm, intracranial berry: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms.
  • Aneurysm, intracranial berry, 1: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 1 is caused by a defect on chromosome 7q11.2.
  • Aneurysm, intracranial berry, 10: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 10 is caused by a defect on chromosome 8q12.1.
  • Aneurysm, intracranial berry, 2: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 2 is caused by a defect on chromosome 19q13.
  • Aneurysm, intracranial berry, 3: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 3 is caused by a defect on chromosome 1p36.13-p34.3.
  • Aneurysm, intracranial berry, 4: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 4 is caused by a defect on chromosome 5p15.2-14.3.
  • Aneurysm, intracranial berry, 5: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 5 is caused by a defect on chromosome 2p13.
  • Aneurysm, intracranial berry, 6: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are now six different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases an individuals risk for developing intracranial berry aneurysms. Type 6 is caused by a defect on chromosome 9p21.
  • Aneurysm, intracranial berry, 7: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 7 is caused by a defect on chromosome 11q24-q25.
  • Aneurysm, intracranial berry, 8: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 8 is caused by a defect on chromosome 14q23.
  • Aneurysm, intracranial berry, 9: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 9 is caused by a defect on chromosome 2q33.1.
  • Aneurysmal subarachnoid haemorrhage: Bleeding in the space around the brain that occurs from a leak in a weakened or dilated blood vessel under the arachnoid layer of the brain. Death can occur if treatment is not prompt.
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Angioma hereditary neurocutaneous: A rare genetic condition characterized angiomas involving both the skin and nervous system.
  • Angioneurotic Edema: Recurring periods of noninflammatory swelling involving the skin, intestinal organs, brain and mucous membranes. In severe cases, respiratory swelling can result in compromised breathing.
  • Aniridia ataxia renal agenesis psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, ataxia, psychomotor retardation and abnormally kidneys.
  • Aniridia cerebellar ataxia mental deficiency: A rare inherited disorder characterized by a partial absence of the iris, mental retardation and impaired coordination of voluntary movements.
  • Anophthalmia -- microcephaly -- hypogonadism: A rare syndrome characterized mainly by absent eyes, a small head and hypogonadism.
  • Anosmia: Reduced or complete loss of ability to smell. Can be a temporary condition associated with colds or a permanent condition resulting from damage to the olefactory nerve which is responsible for the sense of smell.
  • Anosognosia: A condition where a person suffering who is suffering from a disability resulting from a brain injury but is in denial of the fact that they are indeed suffering from a disability. For example a person who has become blind after a brain injury may still firmly believe that they can see. Schizophrenics may refuse treatment because they refuse to acknowledge that there is something wrong with them.
  • Anotia -- facial palsy -- cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
  • Anterior Interosseous Nerve Compression: Compression or entrapment of the radial nerve which is in the forearm. The problem can result from such things as bone tumors, trauma, lipomas or the repetition of certain arm motion. This nerve is involved in controlling various muscles in the hand and the wrist. The condition may be misdiagnosed as tennis elbow - the pain from tennis elbow is usually closer to the elbow than the pain in radial tunnel syndrome.
  • Anterior Interosseous Nerve Syndrome:
  • Anterior cord syndrome: Neurological symptoms caused by compression of the front part of the spinal column or damage to the anterior spinal artery.
  • Anterior horn disease: Any of a group of diseases that affect the anterior horn cells which make up part of the spinal cord. The anterior horn contains motor neurons which primarily affect the axial muscles. Symptoms will vary depending on the specific disease involved. Examples of such diseases includes Werdnig-Hoffmann disease, amyotrophic lateral sclerosis, spinal muscular atrophy, Charcot-Marie-Tooth disease, progressive muscular atrophy and polyiomyelitis.
  • Anterior spinal artery stroke: An interruption to the blood supply in the anterior spinal artery which affects sensation, motor control and bowel control. The symptoms may improve to varying degrees once the blood supply returns to normal. The severity of the disorder depends on the exact location of the defect and how long it persists for.
  • Anterior spinal artery syndrome: Neurological symptoms caused by the blockage of the anterior spinal artery. The blockage may be caused by such things as trauma, cancer, thrombosis and arterial disease. Symptoms are determined by the exact location of the blockage.
  • Anthrax meningitis: Anthrax meningitis is an infectious disease caused by breathing in the spores of the bacteria Bacillus anthracis.
  • Anticholinergic syndrome: Symptoms caused by overdose of anticholinergic drugs.
  • Apallic syndrome: A persistent vegetative state caused by brain damage.
  • Aphasia, Broca: A language disorder that originates from damage or maldevelopment to the part of the brain known as Broca's area. Other parts of the brain may also be affected.
  • Aphasia-epilepsy, acquired: A rare childhood neurological disorder characterized by aphasia, epileptic seizures and inability to recognize sounds. The symptoms may develop quickly or gradually.
  • Apraxia, Ideomotor: A movement disorder usually associated with damage to the left parietal lobe. Patients have difficulty translating and idea into a movement. It may also result from improper signal transmission to the motor cortex which controls movement. For example, they can use scissors automatically but have problems when they are specifically asked to use scissors.
  • Arachnodactyly -- ataxia -- cataract -- aminoaciduria -- mental retardation: A rare syndrome characterized mainly by congenital cataracts, ataxia, mental retardation, abnormal amino acid metabolism and long, thin fingers.
  • Arachnoid Cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord and brain. The type and severity of symptoms is determined by the size and location of the cyst.
  • Arachnoiditis: A progressive disorder where the arachnoid membrane becomes inflamed and the brain and spinal cord may also become inflamed.
  • Arakawa syndrome 1: An inherited metabolic disorder where an enzyme deficiency (glutamate formiminotrransferase) causes mental and physical retardation and degeneration of brain tissue.
  • Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
  • Arena synddrome:
  • Arena syndrome: A rare disorder characterized by mental retardation, spastic paraplegia and iron deposits in part of the brain that controls movement (basal ganglia).
  • Argyll-Robertson syndrome: An eye disorder where the pupils can respond to changes in distance (accommodation) but not to light. The pupil doesn't respond normally to light changes (dilate or constrict). One or both eyes may be involved. The condition is often associated with syphilis that involves the nerves but may also occur in conditions such as multiple sclerosis, virus infections and heredodegenerative conditions.
  • Argyria: Grey/black staining of the skin due to overexposure of silver salts - usually occupational exposure or medication
  • Arima syndrome: A rare disorder characterized mainly by eye and brain abnormalities.
  • Arnold-Chiari Malformation (Type 1): A rare malformation where the base of the brain enters into the upper spinal canal.
  • Arnold-Chiari Syndrome: Malformation of the brain which leads to herniation of the cerebellar tonsils and the medulla into the foramen magnum.
  • Arnold-Chiari malformation type 2: A rare malformation where the base of the brain enters into the upper spinal canal. The extent of the deformity is greater in type 2 than type 1 and hence the symptoms are more severe and are often associated with a myelomeningocele (opening of the spine and spinal cord).
  • Arnold-Chiari malformation type 3: An extremely rare malformation where the base of the brain enters into the upper spinal canal. Type 3 involves the herniation of brain or brain stem tissue out of the back of the neck or head. The condition generally has a poor prognosis.
  • Arnold-Chiari malformation type 4: Arnold-Chiari malformation is a rare malformation where the base of the brain enters into the upper spinal canal. Type 4 actually involves a lack of development of a portion of the base of the brain (cerebellum). The prognosis is very poor with death often occurring during infancy.
  • Arthrogryposis -- epileptic seizures -- migrational brain disorder: A rare disorder characterized by congenital joint contractures, epileptic seizures and brain development abnormalities. It can be caused by fetal exposure to alcohol or chemical products.
  • Arthrogryposis -- spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Joint contractures are also present at birth.
  • Arthrogryposis multiplex congenita neurogenic type: A rare non-progressive syndrome characterized by congenital contractures that originates from a nerve problem (spinal motor neuron depletion).
  • Arthrogryposis-like hand anomaly -- sensorineural deafness: A rare disorder characterized by hand contractures and deafness.
  • Arthrogrypotic hand abnormality and sensorineural hearing loss: Arthrogrypotic hand abnormality and sensorineural hearing loss is a very rare condition reported in a only a few families. It is characterized by finger and thumb abnormalities and hearing loss.
  • Arthropathy, Neurogenic: Joint destruction caused by damage to the nervous system which prevents the patient feeling sensations in the joint. Due to the nerve damage, pain and damage to the joint often goes unnoticed as the joint deteriorates even further. The knee and ankle are the most common joints affected. The condition is usually caused by an underlying diseases which affects the nerves e.g. diabetic neuropathy, syringomyelia, spinal cord injury and pernicious anemia.
  • Astrocytoma: A malignant tumour of the nervous system composed of astrocytes.
  • Asymbolia for pain: A rare inherited anomaly where a person has no pain sensation - the patient is unable to feel physical pain. Patients can be prone to severe injuries as they are unable to detect if they've been injured or have a broken bone.
  • Ataxia -- hypogonadism -- choroidal dystrophy: A very rare disorder characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.
  • Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
  • Ataxia spastic congenital miosis: A rare, dominantly inherited disorder characterized mainly by ataxia, spasticity and small pupils that respond poorly to light.
  • Ataxia, episodic -- vertigo -- tinnitus -- myokymia: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as tinnitus and vertigo. Stress, exhaustion, sudden movements and exertion may trigger the episodes. It is caused by a defect on chromosome 1q42.
  • Ataxia-oculomotor apraxia syndrome: A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems.
  • Athabaskan brainstem dysgenesis: A rare neurological disorder caused by abnormal brainstem development and function.
  • Atherosclerosis, premature -- deafness -- diabetes mellitus -- photomyoclonus -- nephropathy -- degenerative neurologic disease: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
  • Atherosclerosis- deafness -- diabetes -- epilepsy -- nephropathy: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
  • Athetoid Cerebral Palsy: Cerebral palsy is movement disorder originating from some sort of damage to the brain. There are a few different types of cerebral palsy e.g. spastic, athetoid and ataxic. Athetoid cerebral palsy is characterized by athetoid movements which are slow, writhing involuntary muscle movements.
  • Athetosis: Slow, continuous, involuntary writhing movements. Usually the hands and feet are involved but the face, tongue, neck and other muscle groups may also be involved.
  • Atonic seizure: Abnormal electrical activity in the brain which results in sudden loss of muscle tone. In mild cases, the head may simply drop down briefly but in more severe cases the person simply collapses to the floor. There is a high risk of injury in this type of seizure as the person collapses suddenly and can easily incur a head injury. The episode generally only lasts about 15 seconds. This form of seizure usually occurs with Lennox-Gastaut syndrome.
  • Attention Deficit Hyperactivity Disorder: Behavioral disorder with hyperactivity and/or inattention.
  • Attention Deficit-Hyperactivity Disorder, Susceptibility to, 1: ADHD or attention deficit hyperactivity disorder is a common neurobehavioral developmental disorder that usually occurs in childhood and can continue into adulthood. Researchers have discovered a number of genes linked to an increased susceptibility to ADHD. Type 1 is linked to a defect on chromosome 16p13.
  • Attention Deficit-Hyperactivity Disorder, Susceptibility to, 2: ADHD or attention deficit hyperactivity disorder is a common neurobehavioral developmental disorder that usually occurs in childhood and can continue into adulthood. Researchers have discovered a number of genes linked to an increased susceptibility to ADHD. Type 2 is linked to a defect on chromosome 17p11.
  • Attention Deficit-Hyperactivity Disorder, Susceptibility to, 3: ADHD or attention deficit hyperactivity disorder is a common neurobehavioral developmental disorder that usually occurs in childhood and can continue into adulthood. Researchers have discovered a number of genes linked to an increased susceptibility to ADHD. Type 3 is linked to a defect on chromosome 6q12.
  • Attention Deficit-Hyperactivity Disorder, Susceptibility to, 4: ADHD or attention deficit hyperactivity disorder is a common neurobehavioral developmental disorder that usually occurs in childhood and can continue into adulthood. Researchers have discovered a number of genes linked to an increased susceptibility to ADHD. Type 4 is linked to a defect on chromosome 5p13.
  • Attention Deficit-Hyperactivity Disorder, Susceptibility to, 5: ADHD or attention deficit hyperactivity disorder is a common neurobehavioral developmental disorder that usually occurs in childhood and can continue into adulthood. Researchers have discovered a number of genes linked to an increased susceptibility to ADHD. Type 5 is linked to a defect on chromosome 2q21.1.
  • Attention Deficit-Hyperactivity Disorder, Susceptibility to, 6: ADHD or attention deficit hyperactivity disorder is a common neurobehavioral developmental disorder that usually occurs in childhood and can continue into adulthood. Researchers have discovered a number of genes linked to an increased susceptibility to ADHD. Type 6 is linked to a defect on chromosome 13q12.11.
  • Attention Deficit-Hyperactivity Disorder, Susceptibility to, 7: ADHD or attention deficit hyperactivity disorder is a common neurobehavioral developmental disorder that usually occurs in childhood and can continue into adulthood. Researchers have discovered a number of genes linked to an increased susceptibility to ADHD. Type 7 is linked to a defect on chromosome 12q21.
  • Atypical pyridoxine-dependent seizures: A form of epilepsy which responds to anticonvulsant therapy for only a period of time but are able to be managed by pyridoxine supplementation after a few months. Seizures may disappear for a few months even after pyridoxine supplementation is ceased.
  • Auditory Diseases, Central: A disorder where a person is unable to understand, recognize or differentiate sounds despite the fact that hearing and intelligence are normal.
  • Auditory Processing Disorder: Failure of the brain to correctly process sound.
  • Auditory neuropathy: A hearing disorder caused by impaired nerve signals from the inner part of the ear to the brain.
  • Auditory perceptual disorder: A hearing disorder where the brain is unable to properly process or interpret auditory information it receives from the hearing organs.
  • Auditory seizure: A type of seizure where abnormal electrical activity in a part of the brain that control the sense of hearing results in episodes of abnormal hearing symptoms.
  • Ausrian triad: The association of pneumococcal pneumonia, meningitis and endocarditis.
  • Austrian syndrome: A condition where alcoholism is associated with heart failure and pneumococcal meningitis.
  • Autoimmune Diseases of the Nervous System: A group of diseases where the body's immune system attacks it's own nervous system. Examples includes opsoclonus myoclonus syndrome, Guillain-Barre syndrome and multiple sclerosis. Symptoms vary depending on which nerves are involved.
  • Autoimmune Myelopathy: A disturbance functionally or pathological change in the spinal cord
  • Autoimmune limbic encephalitis: Limbic encephalitis is an inflammation of the limbic system which is the part of the brain responsible for basic autonomic functions. In the paraneoplastic type, the inflammation is caused by autoimmune processes.
  • Autoimmune nerve disorders: Nerve disorders occurring when there is an immune response of the body against its own tissues.
  • Autoimmune neuropathies: Nerve diseases from autoimmune damage.
  • Autoimmune peripheral neuropathy: Damage to peripheral nerves that occurs when the body's own immune system attacks it.
  • Autonomic Dysreflexia: A complication of spinal cord injury where a particular stimulus can trigger an excessive response from the autonomic nervous system which causes blood pressure to rise - sometimes to dangerous levels. Stimuli that can trigger the response include bladder irritation, bowel irritation (e.g. due to constipation, gas, enema), skin irritation (e.g. due to burns, pressure sores, ingrown toenails), broken bones, tight clothing, labour and temperature extremes. The severity and frequency of the condition is highly variable. The condition occurs in patients with tetraplegia or with loss of sensation above the lower rib cage.
  • Autonomic dysreflexia syndrome: A complication caused by injury to the neck or upper back region of the spinal cord. Symptoms are induced by stimulation below the level of the injury which can be caused by such things as distended bladder, scratching the feet, squeezing the penis, stimulation of the rectum or accumulation of gas.
  • Autonomic nerve disorders: A disorder of the nervous system concerned with regulation of activity of cardiac muscle, smooth muscle, and glands, usually restricted to the sympathetic and parasympathetic systems
  • Autonomic neuropathy: A disorder of the nervous system concerned with regulation of activity of cardiac muscle, smooth muscle, and glands, usually restricted to the sympathetic and parasympathetic systems
  • Autonomic seizure: A type of seizure where abnormal electrical activity in a part of the brain that control autonomic functions results in episodes of abnormal symptoms such as vomiting, flushing and sweating.
  • Autosomal Dominant Charcot-Marie-Tooth with hearing loss: A dominantly inherited form of Charcot-Marie-Tooth disease which also involves hearing loss. Charcot-Marie-Tooth disease is a progressive nerve disease that affects the peripheral nerves and hence the muscles primarily in the limbs.
  • Autosomal dominant nocturnal frontal lobe epilepsy: A rare inherited form of epilepsy characterized by seizures during the night. The seizures tend to be brief (usually less than a minute) and violent and tend to occur in clusters. Patients are usually aware during the seizure.
  • Autosomal recessive spastic paraplegia, type 11:
  • Avasthey syndrome: A very rare syndrome characterized by pulmonary hypertension, lymphedema and malformation of brain blood vessels.
  • Avellis's syndrome: Damage to a part of the brain stem (nucleus ambiguous) which affects signals being sent to the vagus nerve which controls the pharynx and larynx. Paralysis occurs on one side of the palate and vocal cord and loss of sensation in the other side of the body. The damage may be due to such things as trauma, cancer or toxicity.
  • Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
  • Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss: A rare syndrome characterized mainly by heart defects, hearing impairment and a congenital eye disorder called Axenfeld-Rieger anomaly.
  • BAER: A test which tests both the ear and the brain - measures the brains response to certain noises. The test is designed to provide information on neurological function, hearing loss and nervous system anomalies.
  • BANF acoustic neurinoma: A type of tumor that affects hearing and is associated with a condition called BANF (bilateral acoustic neurofibromatosis). The tumor is benign an occurs in the cells that form the myelin sheath of the vestibulocochlear nerve. The symptoms vary depending on the size and exact location of the nerve. The tumor may become large enough to compress against various cranial nerves or even the brainstem.
  • BOR-Duane hydrocephalus contiguous gene syndrome: A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
  • Babinski-Nageotte syndrome: A rare disorder caused by damage to a part of the brain (medullobulbar transitional area) which causes a variety of neurological symptoms, some of which affect only one side of the body.
  • Bacterial meningitis: Bacterial meningitis is a form of meningitis caused by bacteria that normally lives in the mouth and throat. When the immune system is unable to supress this bacteria, it travels to the cerebrospinal spinal fluid in the brain. From there it affects the membranes surrounding the brain.
  • Bahemuka Brown syndrome: A very rare syndrome characterized by spastic paraplegia and skin pigmentation irregularities.
  • Baker-Vinters syndrome: A very rare syndrome characterized by premature fusion of skull bones, hydrocephalus and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles.
  • Bald soprano syndrome: The inability to recognize a familiar face. Some people are able to recognize their own face. It is thought to be caused by a brain abnormality.
  • Balint's syndrome: A rare eye disorder characterized by difficulties with visual perception which stems from damage to a part of the brain. Essentially, the patient is unable to see more than one object at a time irrespective of the size of the object. For example, if gazing at a dot inside a circle, the patient will see either the dot or the circle but not both.
  • Balo disease: A rare neurological disorder where the protective sheath around brain nerve fibres are progressively destroyed. Symptoms are determined by the size and location of the affected brain area.
  • Balo's concentric sclerosis: Demyelination of the brain producing a variety of symptoms depending on the area of the brain affected.
  • Baltic myoclonic epilepsy: A rare inherited type of progressive myoclonus epilepsy which tends to cause symptoms during childhood. The involuntary muscle movements tend to occur more frequently and become more severe with increasing age. Symptoms may occur following various stimuli such as light, stress or exercise.
  • Bannwarth's triad: The association of lymphocytic meningitis, cranial nerve palsy and radiculoneuritis.
  • Baraitser Brett Piesowicz syndrome: A very rare syndrome characterized by a small head and calcification in the brain.
  • Barre-Lieou syndrome: A rare condition where trauma (such as pinching by adjacent vertebrae or arthritis) to the sympathetic nerves located in the spinal area of the neck results in a variety of neurological symptoms.
  • Barsony-Polgar syndrome 1: Nerve pain associated with the hip. Pregnancy and physical activity can make symptoms worse.
  • Bartschi-Rochaix syndrome: A range of symptoms caused by compression of the cerebral artery.
  • Basal Ganglia Disease, Adult-Onset: A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
  • Basal ganglia calcification, idiopathic 1: Abnormal calcium deposits in the part of the brain called the basal ganglia. Type 1 results in psychiatric, cognitive or neurological problems associated with the calcification. The symptoms experienced are variable.
  • Basal ganglia calcification, idiopathic 2: Abnormal calcium deposits in the part of the brain called the basal ganglia. The calcification is not associated with any other condition and occurs for no apparent reason. In type 2, there are no psychiatric, cognitive or neurological problems associated with the calcification.
  • Basal ganglia disease, biotin-responsive: A neurological disease that affects the part of the brain called the basal ganglia. The disease responds well to biotin administration but relapses within a month if the biotin is stopped. If the condition is diagnosed late or there are recurring episodes, the patient may suffer ongoing symptoms such as paraparesis, mild mental retardation or dystonia.
  • Basilar Migraine: Variant form of migraine headache seen mainly in teenage girls, giving complex neurological symptoms prior to onset and during the migraine
  • Basilar artery insufficiency syndrome: A range of symptoms caused by impaired blood flow through the basilar artery. The symptoms may come and go according to variation in blood flow through the basilar artery. The blood flow may be impaired by such things as thrombosis, narrowed artery and blood vessel spasms. Symptoms vary depending on the exact location and extent of the artery involvement as well as whether the onset is gradual or sudden.
  • Basilar artery migraine: Basilar migraine (BM), also known as Bickerstaff syndrome, consists of headache accompanied by dizziness, ataxia, tinnitus, decreased hearing, nausea and vomiting, dysarthria, diplopia, loss of balance, bilateral paresthesias or paresis, altered consciousness, syncope, and sometimes loss of consciousness.
  • Basilar impression primary: A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospinal fluid flow may be obstructed which can cause fluid to build up inside the skull (hydrocephalus).
  • Batten Disease: Rare childhood genetic degenerative nerve system disease.
  • Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
  • Becker disease: A rare inherited neuromuscular disorder characterized by muscle stiffness when movement is initiated and difficulty relaxing muscles after movement had occurred. Becker disease is a recessively inherited form of myotonia congenita and usually occurs later in childhood than the dominantly inherited form and muscle stiffness is usually more severe.
  • Beemer-Ertbruggen syndrome: A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.
  • Behr syndrome: A rare inherited neurological condition characterized by spastic paraplegia and sometimes optic atrophy.
  • Bell mania: A rare life-threatening neuropsychiatric disorder involving delusions, hyperactivity and periods of fever. Death can occur within days or months without treatment.
  • Bell's Palsy: A usually temporary facial nerve disorder where a part or all of the face becomes suddenly paralysed.
  • Ben-Ari-Shuper-Mimouni syndrome: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
  • Benedikt's syndrome: Damage to a part of the brain (intremedullary part of midbrain) can result in various neurological symptoms which can vary depending on the exact location and extent of the damage. Limb and trunk symptoms tend to be on the opposite side the eye symptoms. The damage may be caused by such things as trauma, cancer and stroke.
  • Benign Multiple Sclerosis: Describes a type of relapsing-remitting multiple sclerosis in which few relapses occur. These relapses tend to produce sensory symptoms, which go away and leave very little or no residual damage or disability
  • Benign angiitis of the central nervous system: A generally harmless inflammation of blood vessels that affect the central nervous system (brain and spinal cord).
  • Benign astrocytoma: Benign tumors that occur in the brain or spinal cord. Symptoms and severity depends on the location and size of the tumors.
  • Benign essential tremor syndrome: A condition characterized mainly by tremor affecting usually then hands and head and the tremors may then slowly progress to other parts of the body.
  • Benign exertional-sex headache: Benign exertional sex-headache is a muscle contraction headache developing before or during an orgasm due to the hemodynamic changes that occur at the time.
  • Benign familial infantile epilepsy: A harmless form of epilepsy that occurs during infancy. Psychomotor development is not affected.
  • Benign familial infantile seizures 1: A harmless form of epilepsy that occurs during infancy. Episodes of multiple seizures tend to occur over a day or few days. Psychomotor development is not affected. The seizures tend to involve increased muscle tone, apnea, cyanosis, eye deviation and psychomotor arrest. Type 1 differs from type 2 in the origin of the genetic defect (chromosome 19).
  • Benign familial infantile seizures 2: A harmless form of epilepsy that occurs during infancy. Episodes of multiple seizures tend to occur over a day or few days. Psychomotor development is not affected. The seizures tend to involve increased muscle tone, apnea, cyanosis, eye deviation and psychomotor arrest. Type 2 differs from type 1 in the origin of the genetic defect (chromosome 16).
  • Benign familial neonatal-infantile seizures: A rare dominantly inherited form of seizures that occurs during the first year of life. The seizures tend to occur in clusters. The seizures involved limb twitching, averted head, eye-blinking and lip smacking. No neurological or developmental problems are associated with this disorder.
  • Benson's syndrome: A rare neurodegenerative disorder characterized mainly by defective visual information processing which affects a person's ability to recognize familiar objects and people.
  • Berger paresthesia: A rare disorder characterized by paresthesia and weakness in the lower legs.
  • Bessman-Baldwin syndrome: A rare disorder characterized by degeneration of the brain and the macula of the eye.
  • Bianchi's syndrome: Damage to a part of the brain (left parietal lobe) resulting in the loss of ability to read (alexia), comprehend language (sensory aphasia) and inability to carry out previously learned purposeful movements (apraxia). The damage may be caused by such things as stroke, trauma and cancer. The type and severity of symptoms are determined by the exact location and extent of damage to the brain.
  • Bickerstaff's brainstem encephalitis: A rare condition where inflammation of the brainstem results in various symptoms such as ataxia and ophthalmoplegia. The onset of symptoms is usually acute.
  • Bickerstaff's brainstem encephalitis (BBE): A rare condition where inflammation of the brainstem results in various symptoms such as ataxia and ophthalmoplegia. The onset of symptoms is usually acute.
  • Bielschowsky disease: An eye disorder where one eye tends to drift upwards while the other remains fixed.
  • Bilateral Occipital Polymicrogyria: Polymicrogyria refers to abnormal brain development where the brain has abnormally smooth gyri (convolutions) on the surface of the brain. In bilateral occipital polymicrogyria, the anomaly covers both sides of the brain at the back of the head (occiput). The condition is characterized by various manifestations, particularly seizures and behavioral problems.
  • Bilateral stroke: Rapidly developing loss of brain function due to disturbance in the blood supply of the brain.
  • Billroth disease (1): A buildup of cerebrospinal fluid under the scalp. It tends to occur mainly in children as a result of skull fractures or a tear in a membrane that surrounds the central nervous system (arachnoid).
  • Bing-Neel syndrome: A rare disorder involving infiltration of the central nervous system by abnormal leukemia-like cells (lymphoplasmocytoid cells) that occur in Waldenström's macroglobulinemia. The abnormality increases blood viscosity which impairs its circulation through small brain and eye blood vessels.
  • Binswanger Disease: Multi-infarct dementia, caused by damage to deep white matter.
  • Binswanger's Disease: A type of senile dementia characterized by chronic cerebrovascular disease.
  • Blepharoptosis: Droopy upper eyelid. The condition may be caused by such things as stroke, brain tumor, diabetes and myasthenia gravis.
  • Blue colourblindness: A rare genetic eye condition where the individual is unable to detect blue and yellow colors but red and green vision remains normal.
  • Bobble-head doll syndrome: A rare condition where a child's head bobs up and down continuously due to either fluid on the brain or a large cyst in the third ventricle of the brain.
  • Bone dysplasia -- corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
  • Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
  • Bone marrow failure -- neurologic abnormalities: A rare syndrome characterized by the association of bone marrow failure and neurological abnormalities.
  • Bonneman-Meinecke-Reich syndrome: A very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the part of the eye called the retina.
  • Bonnemann-Meinecke-Reich syndrome: A rare disorder characterized mainly by growth problems, vision problems and brain disease.
  • Bonnier's syndrome: A range of symptoms caused by damage to Dieter's nucleus (the lateral nucleus of the vestibular nerve) or its connections.
  • Borjeson-Forssman-Lehmann Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Borries syndrome: Localized brain inflammation without the production of pus.
  • Boucher-Neuhauser syndrome: A very rare disorder characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.
  • Bovine spongiform encephalopathy: This is a medical condition caused by the transmission of an infective prion causing an encephalopathy
  • Boylan-Dew-Greco syndrome: A very rare syndrome characterized primarily by insufficient myelination of peripheral nerves and contractures at birth. The myelin sheath is a protective coating around nerves.
  • Brachial Neuritis: Condition where there is a sudden onset of shoulder weakness and pain, thought to be due to a viral infection of the nerve roots in the cervical spine
  • Brachial Plexus Injury: Damage to the nerves controlling the shoulder and arm (often from childbirth).
  • Brachioradial pruritus: A condition characterized by itching, burning and other sensations of the skin on one or both arms. The skin has no visible evidence of the skin unless the patient causes damage to the skin due to scratching or rubbing. The condition results from nerve damage. It is believed that in some cases the condition arises from nerve damage due to excessive sun exposure. Thus the outer parts of the arm (which tend to receive more sun) tend to be more affected than the inner parts of the arm. In other people, damage to the nerves in the neck from such things as compression or a spinal tumor may also result in the condition.
  • Brachydactyly nystagmus cerebellar ataxia: A very rare syndrome characterized mainly by short digits, nystagmus and cerebellar ataxia.
  • Bradbury-Eggleston syndrome: A syndrome mainly involving reduced blood pressure, lightheadedness or fainting on standing, dizziness and visual disturbances that is associated with a degeneration of the autonomic nerve system. It is most common in older males. Symptoms tend to be worse in the morning, after eating, after exercise or in hot weather.
  • Braddock Jones Superneau syndrome: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
  • Bradykinesia: A medical term used to describe slow execution of movements and the ability to adjust the body's position is reduced.
  • Bradyopsia: An eye anomaly which causes difficulty in adjusting to changes in brightness, light sensitivity and sometimes impaired sharpness of vision.
  • Brain -- bone -- fat: A rare inherited disease characterized by bone cysts and progressive presenile dementia.
  • Brain Concussion: Trauma resulting in minor injury to the brain which causes a period of interrupted brain function. Simple concussions resolve themselves in about a week whereas more serious ones have persisting symptoms. The onset of symptoms may be delayed.
  • Brain Damage-Induced Synesthesia: Brain damage-induced synesthesia is a form of synesthesia resulting from damage to the brain - usually results from damage to the front portion of the brain or the optical nerve. Damage to the brain may involve tumors, disease processes or even trauma. Synesthesia is a relatively common perceptual anomaly where a stimulus of one of the senses (e.g. hearing) results in an experience or sensation in another sensory modality or an unusual perception in the same sensory modality. There is a range of possible manifestations, particularly those that involve touch and visual stimuli.
  • Brain Fag syndrome: A type of neurotic disorder that was first observed in white collar workers in Africa.
  • Brain Stem Glioma: Tumor of the brain stem consisting of neuroglia of many stages of development.
  • Brain Stem Neoplasms: A brain stem tumor. The tumor may be malignant or benign and the severity of the condition is determined by the size of the tumor and exact location.
  • Brain abscess: Pus accumulating into an abscess on the brain
  • Brain cancer: Cancer of the brain.
  • Brain compression: Internal compression of the brain
  • Brain conditions: Medical conditions that affect the brain
  • Brain damage: Damage to the brain from various causes
  • Brain infection: Infection of the brain including encephalitis
  • Brain malformation -- congenital heart disease -- postaxial polydactyly: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
  • Brain stem lesions: Diseases of the brain stem can result to abnormalities in the function of cranial nerves which may lead to visual disturbances, pupil abnormalities, changes in sensation, muscle weakness, hearing problems, vertigo, swallowing and speech difficulty, voice change, and co-ordination problems.
  • Brain tumor, adult: A growth or tumor that develops in the tissues of the brain in adults. The tumor can be benign or malignant.
  • Brissaud-Marie syndrome: A rare disorder characterized by symptoms similar to those caused by neurological diseases but there is no physical evidence to confirm neurological involvement. The symptoms are not feigned or intentionally produced.
  • Bristowe's syndrome: Symptoms caused by a brain tumor that develops in the corpus callosum which connects the two brain hemispheres.
  • Brody myopathy: A form of neuromuscular disease caused by a genetic defect. The muscles have difficulty relaxing after exercise or strong movements such as making a fist or forcefully closing eyes.
  • Brown-Sequard Syndrome: A disorder where spinal cord compression and lesions involve only half of the spinal cord.
  • Brown-Symmers disease: A rare form of brain inflammation that occurs in children and can quickly lead to death. Symptoms usually start suddenly.
  • Brown-Vialetto-Van Laere syndrome: A very rare progressive disorder characterized by nerve deafness and cranial (and sometimes spinal) nerve paralysis.
  • Brudzinski's sign: Involuntary flexion of the leg when flexing the neck.
  • Brun's syndrome: Various neurological symptoms caused by an obstruction of the flow of cerebrospinal fluid with certain head postures. The obstruction is often due to some sort of brain tumor or cyst. Symptoms come and go depending on the position of the head.
  • Bruns-Garland syndrome: Spinal cord damage that occurs in some diabetics and results in weakness and wasting in the arms and legs.
  • Burnett-Schwartz-Berberian syndrome: A rare syndrome characterized by an inflammatory facial skin disorder and various congenital anomalies.
  • CACH syndrome: A rare syndrome characterized mainly by childhood ataxia and reduced myelination of the cerebral nerves. Motor and mental development in the first few years of life is normal with progressive neurodegeneration occurring between 2 and 5 years of age. Fever and trauma to the head can speed up disease progression.
  • CANOMAD syndrome: A rare syndrome characterized by a range of abnormalities caused by immune-mediated nerve demyelination. There is usually no loss of limb function associated with the disorder. The face, throat, mouth and eye symptoms (weakness of the muscles) usually come and go.
  • CAR syndrome: A progressive autoimmune eye disease caused by cancer that occurs outside the eye area. It is a type of paraneoplasic cancer which refers to distant neurological effects caused by a cancer. Eye symptoms usually occur before the cancer is detected.
  • CFS subtype 1 (cognitive, musculoskeletal, sleep, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 1 tends to be more severe with the dominant symptoms being anxiety, depression and cognitive, musculoskeletal and sleeping problems.
  • CFS subtype 2 ( musculoskeletal, pain, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 2 tends to be more severe with the dominant symptoms being anxiety, depression, pain and musculoskeletal problems.
  • CFS subtype 3 (mild): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 3 tends to have milder symptoms than other subtypes.
  • CFS subtype 4 (cognitive, musculoskeletal, sleep, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 4 tends to be dominated by cognitive symptoms.
  • CFS subtype 5 (musculoskeletal, gastrointestinal): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 5 tends to be dominated by musculoskeletal and gastrointestinal symptoms.
  • CFS subtype 6 (postexertional): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 6 tends to be dominated by excessive fatigue following exertion.
  • CFS subtype 7 (pain, infectious, musculoskeletal, sleep, neurological, gastrointestinal, neurocognitive, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 7 tends to be more severe with the dominant symptoms being pain, infections, anxiety, depression and musculoskeletal, sleep, neurological, gastrointestinal and neurocognitive problems.
  • COACH syndrome: A very rare syndrome characterized by ataxia, gaps or holes in various eye structures, mental retardation, liver fibrosis and brain abnormalities.
  • COFS syndrome: A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage.
  • Cadasil: A rare inherited condition which affects the small blood vessels of the brain. Damage to the vessels causes strokes and other problems.
  • Calcification of basal ganglia with or without hypocalcemia: Calcification of a part of the brain called the basal ganglia. That calcification may be associated with conditions such as hypothyroidism, cytomegalovirus, and AIDS or may occur for no apparent reason. The severity of the condition may vary greatly from asymptomatic to neurological, psychiatric and movement disorders. The disorder may also progress at variable rates or remain stable depending on the underlying disease process.
  • California encephalitis: An uncommon mosquito born virus (California encephalitis virus) which can cause brain inflammation in humans. The severity of symptoms is variable. The incubation period can last from a few days to a week. Infants and children tend to be more severely affected than adults who sometimes have no obvious symptoms.
  • Calloso-genital dysplasia: A rare syndrome characterized by the total absence of the brain structure that connects the two halves of the brain (corpus callosum) as well as absent menstruation and coloboma.
  • Canavan disease: Rare genetic degenerative brain disease in infants.
  • Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
  • Carcinomatous meningitis: Carcinomatous meningitis, is a form of metastatic cancer that has spread to the lining of the brain and spinal cord, the parts of the body that make up the central nervous system.
  • Carcinomatous polyneuropathy: It is a condition which damages nerves by directly invading or putting pressure on them or by triggering an autoimmune reaction.
  • Cardiac malformation, cleft lip-palate, microcephaly and digital anomalies: A newly described syndrome characterized by heart malformations, cleft lip/palate, small head and digital anomalies.
  • Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called cytochrome C oxidase (COX) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hear, brain and kidneys as well as the muscles.
  • Carnosinase deficiency: A very rare inherited metabolic disorder characterized by severe neurological abnormalities such as mental retardation and myoclonic seizures.
  • Catalepsy: Complete trance-like mental detachment
  • Catamenial seizure: A type of seizure that is associated with the female menstrual cycle. It appears that flucutations in hormone levels leads to increased seizure activity in some women just before or during their menstrual cycle. Simple or complex partial seizures or generalized tonic-clonic seizures may be involved.
  • Cataract -- Hypertrichosis -- Intellectual Deficit: A rare genetic disorder characterized mainly by excessive body hair (especially on the back, shoulders and sides of the face), cataracts and mental retardation.
  • Cataract -- ataxia -- deafness: A rare syndrome characterized by cataracts, ataxia and progressive deafness.
  • Cataract-glaucoma: A rare syndrome characterized by congenital cataracts in both eyes as well as glaucoma which tends to occur between the ages of 10 and 40.
  • Catatonic syndrome: A rare syndrome often seen in schizophrenics or associated with central nervous system disturbances or brain trauma. The symptoms tend to occur in episodes with periods of remission in between.
  • Cauda equina syndrome: Is a neurological syndrome which occurs when a vertebral disc protrudes and compresses the spinal cord.
  • Caudal appendage -- deafness: A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage).
  • Caudal duplication: A rare disorder where some of the embryonic tissues that develop into the lower spine, genitalia and lower abdominal organs are duplicated - probably due to the incomplete separation of twins arising from one egg. The range of possible defects is extensive but often they are able to be surgically corrected and a relatively normal life is possible.
  • Caudal dysplasia sequence: A rare congenital disorder characterized by abnormal development of the lower spine during the fetal stage.
  • Caudal regression syndrome: A rare disorder where the bottom part of the fetal spine doesn't develop normally resulting in abnormalities that may be severe or mild depending on the degree of abnormality.
  • Celiac disease -- epilepsy -- occipital calcifications: A rare syndrome characterized by celiac disease and epilepsy with brain calcifications.
  • Cennamo-Gangemi syndrome: A rare syndrome characterized by small eyes, congenital cataracts and hydrocephalus (buildup of fluid in the brain).
  • Central nervous system infections:
  • Central nervous system lymphoma, primary: A type of lymphoma that occurs in the central nervous system (brain and spinal cord). A lymphoma consists of cancerous lymphocytes which are a type of white blood cell. Symptoms vary according to the location of the lymphoma.
  • Central nervous system oxygen toxicity: High oxygen levels which affects the central nervous system. The condition can occur during deep dives with fatal consequences.
  • Central pontine myelinolysis: A rare condition where the protective layer around brainstem nerve cells is destroyed which prevents nerve signals being transmitted properly. It generally occurs in response to a rapid change in sodium levels in the body which can be caused by treatment of various conditions or by various conditions that cause rapid sodium level changes.
  • Central sleep apnea: Central sleep apnea is when the person repeatedly stops breathing during sleep because the brain temporarily stops sending signals to the muscles that control breathing.
  • Centrotemporal epilepsy: A benign form of childhood epilepsy that tends to occur at night (during sleep) and involves mainly the face and mouth but may be generalized. The seizures tend to be short-lived and only involve one side of the face. The epilepsy usually resolves itself by adulthood and responds well to medication.
  • Cephalic disorders: Various congenital brain defects
  • Cephalic tetanus: Rare severe form of tetanus of the brain and head.
  • Cephalopolysyndactyly: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities. The type and severity of symptoms is variable with many cases remaining undiagnosed because their condition is relatively mild and doesn't cause many problems.
  • Cephalothoracic progressive lipodystrophy: A rare acquired disorder that involves adipose tissue abnormalities and is characterized by loss of adipose tissue mainly in the trunk and arms.
  • Cerebellar Ataxia, Deafness and Narcolepsy: A rare condition characterized by the association of narcolepsy, deafness and cerebellar ataxia. Narcolepsy is a sleep disorder where characterized by the classic tetrad of excessive daytime sleepiness, cataplexy, hypnagogic hallucinations and sleep paralysis.
  • Cerebellar abscess: An abscess that forms in the part of the brain called the cerebellum. The abscess may result from other infections such as ear infections, dental abscess and lung infections. The prognosis is determined by the size and exact location of the abscess
  • Cerebellar agenesis: A rare disorder characterized by an absent or underdeveloped portion of brain called the cerebellum which controls muscle and balance. Partial absence may cause little or no symptoms but complete absence results in movement and muscle problems.
  • Cerebellar ataxia -- areflexia -- pes cavus -- optic atrophy -- sensorineural hearing loss: A rare syndrome characterized mainly by ataxia, absent reflexes, high foot arch (pes cavus), progressive optic nerve degeneration and hearing impairment. The ataxic symptoms tended to occur early in life after an illness involving fevers. The ataxia then tends to come and go but then persists into adulthood. The severity of symptoms is variable.
  • Cerebellar ataxia -- ectodermal dysplasia: A rare syndrome characterized by balance and coordination problems and teeth and hair abnormalities.
  • Cerebellar ataxia -- intellectual deficit -- optic atrophy -- skin abnormalities: A rare syndrome characterized by ataxia, mental retardation, optic atrophy and skin abnormalities.
  • Cerebellar ataxia syndrome: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia.
  • Cerebellar ataxia type 1, autosomal recessive: A slow progressing brain disorder characterized by ataxia and dysarthria.
  • Cerebellar ataxia, X-linked: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia. The rate of progression can vary.
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss: A rare syndrome characterized mainly by ataxia, absent reflexes, high foot arch (pes cavus), progressive optic nerve degeneration and hearing impairment. The ataxic symptoms tended to occur early in life after an illness involving fevers. The ataxia then tends to come and go but then persists into adulthood.
  • Cerebellar ataxia, autosomal recessive: A group of rare, recessively inherited neurological disorders caused by abnormalities in the cerebellum and spinal cord. In some cases other parts of the body may be affected.
  • Cerebellar ataxia, dominant pure: A dominantly inherited form of ataxia that involves only the cerebellar system.
  • Cerebellar ataxia, infantile with progressive external ophthalmoplegia: A rare disorder characterized by cerebellar ataxia during infancy and progressive paralysis of eye muscles.
  • Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
  • Cerebellar degeneration: Degeneration of nerves in the part of the brain called the cerebellum which controls balance and muscle coordination.
  • Cerebellar degeneration, subacute: A rare disorder involving degeneration of the cerebellum and sometimes involves nearby spinal cord or brain tissue.
  • Cerebellar hypoplasia: A rare brain disorder where a part of the brain (cerebellum) fails to develop fully. The cerebellum is the part of the brain that controls balance and movement.
  • Cerebellar hypoplasia -- endosteal sclerosis: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
  • Cerebellar hypoplasia -- tapetoretinal degeneration: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and a nonprogressive eye disorder involving the retinal pigments. The cerebellum is the part of the brain that controls balance and movement.
  • Cerebellar parenchymal degeneration: Progressive deterioration of brain tissue. Symptoms can vary depending on the rate of progression, location and extent of the degeneration.
  • Cerebellar vermis hypoplasia -- oligophrenia -- congenital ataxia -- coloboma -- hepatic fibrosis: A very rare syndrome characterized by ataxia, gaps or holes in various eye structures, mental retardation, liver fibrosis and brain abnormalities.
  • Cerebelloolivary atrophy: The degeneration of the parts of the brain called the cerebellum and the olives. Symptoms may vary from case to case depending on the severity and extent of the degeneration.
  • Cerebelloparenchymal autosomal recessive disorder 3: A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems.
  • Cerebelloparenchymal disorder 3: A rare disorder characterized by mental deficiency and delayed development of speech and motor skills. The condition is nonprogressive and is caused by degeneration of a part of the brain called the cerebellum.
  • Cerebelloparenchymal disorder V: An inherited brain disorder characterized by myoclonic jerks which become more apparent during voluntary movements.
  • Cerebellum agenesis -- hydrocephaly: A rare brain disorder which manifests as reduced muscle tone, ataxia, cataracts and mental retardation.
  • Cerebral Amyloid Angiopathy, Familial: A rare disorder where abnormal deposits of amyloid in the brain blood vessels causes spasticity, incoordination and dementia. Brain hemorrhage and strokes may also result in severe cases.
  • Cerebral Aneurysm: Dangerous swelling of a brain blood vessel that may rupture.
  • Cerebral Atrophy: Wasting away of the brain.
  • Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A rare inherited condition characterized primarily by progressive degeneration of the brain white matter and disease of the brain blood vessels as well as additional symptoms not involving the brain e.g. thin skin, alopecia and spinal disc disease.
  • Cerebral Palsy: Any brain disorder causing movement disability
  • Cerebral Palsy, Ataxic, Autosomal Recessive: Ataxic cerebral palsy refers to an injury to the brain that results primarily in low muscle tone and poor coordination of movements. The ataxic autosomal recessive form is an inherited abnormality in the development of the brain which is linked to chromosome 9p12-q12
  • Cerebral Palsy, Spastic Quadriplegic, 1: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 1 refers to a developmental brain abnormality linked to the GAD1 gene on chromosome 2q31.
  • Cerebral Palsy, Spastic Quadriplegic, 2: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 2 refers to a developmental brain abnormality linked to the ANKRD15 gene on chromosome 9p24.3.
  • Cerebral Palsy, Spastic Quadriplegic, 3: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 3 refers to a developmental brain abnormality linked to the AP4M1 gene on chromosome 7q22.1.
  • Cerebral abscess: An abscess that forms in the part of the brain called the cerebrum. The abscess may result from other infections such as ear infections, dental abscess and lung infections. The prognosis is determined by the size and exact location of the abscess.
  • Cerebral astrocytoma, adult: A very rare tumor that occurs in adults and develops in brain cells called astrocytes. The part of the brain involved is the cerebrum at the top of the head which controls functions such as reading, writing, thinking, learning, speech, emotion and voluntary movement.
  • Cerebral calcification cerebellar hypoplasia: A rare fatal condition observed in two sibling and characterized by abnormal calcification in parts of the brain, developmental regression, seizures, blindness and spastic tetraplegia.
  • Cerebral calcifications opalescent teeth phosphaturia: A rare condition characterized mainly by the association of abnormal calcifications in the brain (cerebrum), opalescent teeth and excessive levels of phosphates in the urine.
  • Cerebral cavernous malformations: A rare disorder where a group of small abnormal blood vessels in the brain. These blood vessels become enlarged, irregularly shaped and thin walled. They swell when filled with blood and are then often unable to return to their original shape and the thin walls means that they can leak blood and cause bleeding in the brain. Severity of symptoms depends on the number and location of the lesions.
  • Cerebral contusion: Injury of the cerebrum often causing bruising when the skin is not broken.
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
  • Cerebral gigantism -- jaw cysts: A very rare syndrome characterized mainly by abnormal brain development and jaw cysts.
  • Cerebral hemorrhage: Bleeding in the brain
  • Cerebral hemorrhage with amyloidosis, hereditary, Dutch type: An inherited condition characterized mainly by brain hemorrhage and amyloid deposits in the brain blood vessels. The size and location of the hemorrhage determines the severity of symptoms. The condition was first described in a Dutch family.
  • Cerebral malaria: Infection of the cerebrum cause by protozoa of the genus plasmodium.
  • Cerebral palsy, spastic, diplegic: Brain damage that involves muscle rigidity that occurs either in both arms or in both legs. The brain damage is often the result of a birth defect or some sort of trauma to the brain.
  • Cerebral sarcoma: A type of brain tumor that can be inherited in an autosomal dominant manner. The tumor arises from blood vessels in the brain. Symptoms may vary depending on the size and exact location of the tumor.
  • Cerebral ventricle neoplasm: A tumor that occurs in the fluid-filled spaces of the brain called the ventricles. Symptoms vary depending on the size and exact location of the tumor and whether it is cancerous or not.
  • Cerebro oculo genital syndrome: A very rare syndrome characterized mainly by brain, eye and genital abnormalities.
  • Cerebro oculo skeleto renal syndrome: A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
  • Cerebro-Oculo-Facio-Skeletal Syndrome: A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage.
  • Cerebro-facio-thoracic dysplasia: A very rare syndrome characterized by mental retardation, spinal and rib defects and facial anomalies.
  • Cerebro-oculo-dento-auriculo-skeletal syndrome: A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton.
  • Cerebro-oculo-nasal syndrome: A rare syndrome characterized mainly by eye, nose and brain malformations.
  • Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
  • Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
  • Cerebrorenodigital syndrome with limb malformations and triradiate acetabula: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities as well as an abnormal hip socket.
  • Cerebrotendinous Xanthomatosus: A rare syndrome where a genetic mutation results in a metabolic disorders caused by a deficiency of sterol 27-hydroxylase deficiency. The condition causes progressive neurological dysfunction, cataracts and premature atherosclerosis. Deposits of cholesterol and cholestanol can be found in any part of the body including the brain. The rate of progression and severity of symptoms varying amongst patients. The degree of neurological involvement is also variable.
  • Cerebrovascular Conditions: Conditions of the brain's blood vessels including stroke.
  • Cerebrovascular accident: Occurs when the blood supply to the brain is interrupted and results in cell injury and death.
  • Ceroid lipofuscinosis, neuronal: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). The 10 different type of the disorder are distinguished by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 1, infantile: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it.
  • Ceroid lipofuscinosis, neuronal 10: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 10 involves a deficiency of cathepsin D and involves an initial period of normal development with neurodegenerative symptoms starting during the early school years.
  • Ceroid lipofuscinosis, neuronal 2, late infantile type: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (protease tri-peptidyl-peptidase) needed to process it.
  • Ceroid lipofuscinosis, neuronal 3, Juvenile: A progressive genetic disorder where defective lipid metabolism that causes blindness, neurological deterioration, dementia leading to total incapication within years and death within 10-15 years.
  • Ceroid lipofuscinosis, neuronal 4: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase 1) needed to process it.
  • Ceroid lipofuscinosis, neuronal 5: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 5 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 6, late infantile: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 6 usually occurs between the ages of 2 to 6 years. Type 6 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 7: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 7 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 8: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 8 is distinguished from other types by the origin of the genetic defect.
  • Ceroid lipofuscinosis, neuronal 8, northern epilepsy variant: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 8, northern epilepsy variant is distinguished from other types by the origin of the genetic defect. Mental retardation tended to occur by middle age despite normal development during the first few years of life.
  • Ceroid lipofuscinosis, neuronal 9: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 9 is distinguished from other types by the origin of the genetic defect.
  • Ceroid storage disease: A rare metabolic storage disease characterized by the abnormal deposits of a waxy substance called ceroid lipfuscin in various parts of the body such as the liver, spleen and intestinal lining.
  • Cervical Spondylosis: Condition where bony changes within the cervical spine causes spinal cord compression with associated neck pain; usually seen in patients over 40 years of age.
  • Cervical hypertrichosis neuropathy: A very rare disorder characterized mainly by a hairy throat and abnormal sensations in the hands and feet.
  • Cervicogenic headache: Cervicogenic headache is a syndrome characterized by chronic hemicranial pain that is referred to the head from either bony structures or soft tissues of the neck.
  • Charcot disease: Charcot joint occurs in the presence of sensory or autonomic neuropathy and presents as progressive microtrauma resulting in joint destruction and deformity. It characteristically occurs in weight bearing joints such as the foot, ankle and knee.
  • Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
  • Charcot-Marie-Tooth disease (generic term): A group of inherited neurological disorders characterized by problems with the peripheral nerves. Muscle weakness, muscle wasting and sensory problems are the most common symptoms. The severity and age of onset of symptoms varies depending on the specific subtype of the disorder.
  • Charcot-Marie-Tooth disease -- deafness: Charcot-Marie-Tooth disease is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Charcot-Marie-Tooth disease and deafness involves the usual CMT symptoms as well as deafness.
  • Charcot-Marie-Tooth disease deafness recessive type: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.
  • Charcot-Marie-Tooth disease with ptosis and parkinsonism: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This particular type of CMT also involves a drooping upper eyelid and parkinsonism.
  • Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 5 has an autosomal dominant inheritance, progresses slowly and involves movement disorders.
  • Charcot-Marie-Tooth disease, Type 1A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1A is inherited as an autosomal dominant pattern and involves the duplication of the PMP22 gene on chromosome 17.
  • Charcot-Marie-Tooth disease, Type 1B: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1B is inherited as an autosomal dominant pattern and involves a defect in the MPZ gene on chromosome 1. The severity of the condition is variable depending on the age of onset with severe infantile cases resulting in the inability to walk at an early age.
  • Charcot-Marie-Tooth disease, Type 1C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1C is inherited as an autosomal dominant pattern and involves a defect in the LITAF/SIMPLE gene on chromosome 16.
  • Charcot-Marie-Tooth disease, Type 1D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1D is caused by a defect of the ERG2 gene on chromosome 10 and usually results in a severe form of the disease.
  • Charcot-Marie-Tooth disease, Type 1E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as deafness.
  • Charcot-Marie-Tooth disease, Type 1F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1F is caused by a defect of a gene in chromosome 8 and involves the neurofilament light chain protein.
  • Charcot-Marie-Tooth disease, Type 2A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
  • Charcot-Marie-Tooth disease, Type 2AI: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A1 has an autosomal dominant inheritance and involves a defect in the KIF1B gene on chromosome 1p36.
  • Charcot-Marie-Tooth disease, Type 2AII: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A2 has an autosomal dominant inheritance and involves a defect in the MFN2 gene on chromosome 1p36.
  • Charcot-Marie-Tooth disease, Type 2B: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B has an autosomal dominant inheritance and involves a defect in the gene for the protein RAB 7 located on chromosome 3.
  • Charcot-Marie-Tooth disease, Type 2B1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B1 has an autosomal dominant inheritance and involves a defect in the LMNA gene located on chromosome 1.
  • Charcot-Marie-Tooth disease, Type 2B2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B2 has an autosomal dominant inheritance and involves a defect located on chromosome 19.
  • Charcot-Marie-Tooth disease, Type 2C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in chromosome 12 and involves diaphragm and vocal cord weakness as well as hand and foot problems.
  • Charcot-Marie-Tooth disease, Type 2D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2D has an autosomal dominant inheritance and involves a defect in the glycyl RNA synthetase gene on chromosome 7p15. The hands tend to be more severely affected than the feet.
  • Charcot-Marie-Tooth disease, Type 2E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in the neurofilament light gene on chromosome 8p21.
  • Charcot-Marie-Tooth disease, Type 2F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2F has an autosomal dominant inheritance and involves a defect in the HSPB1 gene on chromosome 7.

 

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