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Diseases » Brain conditions » Glossary
 

Glossary for Brain conditions

  • 3C syndrome: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
  • 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.
  • 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 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.
  • 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.
  • 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.
  • 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 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 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.
  • 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.
  • 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-onset ALD: Form of ALD in adults.
  • 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.
  • 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.
  • 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.
  • Alexander Syndrome: Brain myelin disorder causing mental degeneration.
  • All Disease Categories: All major disease categories
  • 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.
  • Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
  • Alternating Hemiplegia: Episodes of one-sided paralysis.
  • Alveolar Hydatid Disease: Rare multi-organ tapeworm infection caught from animals.
  • 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.
  • Amnesia: Memory loss
  • Amnesic shellfish poisoning: Rare shellfish poisoning sometimes causing amnesia.
  • Amnestic disorder: Memory decline disorder
  • Amyloidosis VI: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Icelandic type, the amyloid deposits affect the brain blood vessels and cause hemorrhages.
  • 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.
  • 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.
  • 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.
  • Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert: A rare condition characterized by diffuse sclerosis and clusters of capillaries in parts of the brain as well as a marbled appearance to the skin.
  • 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.
  • Anophthalmia -- microcephaly -- hypogonadism: A rare syndrome characterized mainly by absent eyes, a small head and hypogonadism.
  • 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.
  • Anoxia: Lack of oxygen to the body's tissues.
  • Anthrax meningitis: Anthrax meningitis is an infectious disease caused by breathing in the spores of the bacteria Bacillus anthracis.
  • Anton-Vogt syndrome: A congenital disorder where a brain anomaly results in involuntary purposeless movements (choreathetosis). Excitement and activity can make symptoms worse.
  • Apallic syndrome: A persistent vegetative state caused by brain damage.
  • Aphasia: Language difficulty usually from brain damage or stroke.
  • 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: A neurological disorder where the sufferer is unable to perform familiar actions such as tying shoelaces even though they understand the action required.
  • 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.
  • 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).
  • 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.
  • Arteriovenous Malformation: Birth defect of a tangle of veins and arteries.
  • 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.
  • Asperger syndrome: A neuropsychiatric disorder mainly involving the inability to understand and becoming involved in social interaction.
  • Astrocytoma: A malignant tumour of the nervous system composed of astrocytes.
  • Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
  • Athabaskan brainstem dysgenesis: A rare neurological disorder caused by abnormal brainstem development and function.
  • 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.
  • 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.
  • 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 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.
  • Autism: Childhood mental condition with social and communication difficulties.
  • 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.
  • 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 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.
  • 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.
  • 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.
  • 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.
  • Balance disorders: Various disorders impairing the body's sense of balance.
  • 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.
  • 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 artery insufficiency: It refers to a temporary set of symptoms due to decreased blood flow in the posterior circulation of the brain.
  • 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 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).
  • Behcet's Disease: Recurring inflammation of small blood vessels affecting various areas.
  • 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 astrocytoma: Benign tumors that occur in the brain or spinal cord. Symptoms and severity depends on the location and size of the tumors.
  • 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.
  • 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.
  • 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.
  • 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.
  • Bipolar disorder: Cycles of mania and depression; commonly called "manic-depression".
  • 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.
  • 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.
  • 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
  • Brachydactyly nystagmus cerebellar ataxia: A very rare syndrome characterized mainly by short digits, nystagmus and cerebellar ataxia.
  • 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.
  • 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 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 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.
  • Brown-Symmers disease: A rare form of brain inflammation that occurs in children and can quickly lead to death. Symptoms usually start suddenly.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Celiac disease -- epilepsy -- occipital calcifications: A rare syndrome characterized by celiac disease and epilepsy with brain calcifications.
  • Central Pain Syndrome: Central pain syndrome is a neurological condition caused by damage to or dysfunction of the central nervous system (CNS), which includes the brain, brainstem, and spinal cord.
  • 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.
  • 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 Arteriosclerosis: Hardening or blockage of arteries in the brain.
  • 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 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.
  • 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.
  • Chemical meningitis: Symptomatic aseptic, chemical meningitis is a rare complication of myelography. A number of these cases have a history of one or more episodes of chemical meningitis preceding their arachnoiditis.
  • Chiari Malformation: Protrusion of the brain down the spinal column.
  • Chiari-1 Malformation: A rare malformation where the base of the brain enters into the upper spinal canal.
  • Childhood-onset cerebral X-linked adrenoleukodystrophy: A rare genetic disorder characterized by progressive degeneration of the protective sheath around nerves resulting in increasing difficulty. The childhood cerebral form of the condition is the most severe.
  • Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
  • Chorea: Any disorder causing involuntary movement or spasms.
  • Chorioretinopathy dominant form -- microcephaly: A rare inherited disorder characterized by a small head, mental retardation and a degenerative eye condition.
  • Choroid plexus cyst: A rare disorder where a cyst forms in the choroids plexus. The choroids plexus in involved in producing cerebrospinal fluid and forms a lining inside the brain ventricles (space inside the brain). The cyst forms when fluid becomes trapped inside this layer and forms a blister. The cysts themselves tend to cause no symptoms but is often associated with chromosomal mutations and other defects. The cysts tend to be observed in the fetus after about 6 months and usually resolve on their own before birth.
  • Choroido cerebral calcification syndrome infantile form: A rare syndrome characterized by abnormal calcification in part of the brain and mental retardation.
  • Chronic 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. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
  • Chronic Viliuisk Encephaliti: 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. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
  • Chronic 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. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
  • Chronic Vilyisk 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. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
  • Chronic 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. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
  • Chronic meningitis: Chronic meningitis is an inflammation of the meninges with subacute onset and persisting cerebrospinal fluid (CSF) abnormalities lasting for at least one month.
  • Chronic wasting disease (CWD) of mule deer and elk: A neurodegenerative disease which is caused by infectious agents called prions. and occurs in deer, elk and moose. The condition is progressive and leads to inevitable death. It is unknown as to whether the disease is transmissible to humans. Symptoms begin a long time after initial infection.
  • Chylomicron retention disease with Marinesco-Sjogren syndrome: A rare condition characterized by abnormal lipid metabolism, vitamin E deficiency, incoordination and short stature.
  • Classic childhood ALD: Classic severe form of ALD in boys.
  • Classical pyridoxine-dependent seizures: A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication.
  • Cleft lip -- palate -- abnormal thumbs -- microcephaly: A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate.
  • Clonic seizures: Abnormal electrical activity in a part of the brain which results in rhythmic jerking limb movements. Limbs on one or both side of the body may be affected. The duration of the episodes is variable but usually only lasts a few minutes. Clonic seizures can occur at any age and episodes are generally not followed by tiredness and confusion. Clonic seizures usually start in early childhood.
  • Cognitive impairment: General loss of mental or cognitive ability
  • Coloboma chorioretinal cerebellar vermis aplasia: A very rare syndrome characterized by an eye anomaly (gap in eye structures such as choroids and retina) and abnormal development of the midline structure of the brain (cerebellar vermis aplasia).
  • Coloboma porencephaly hydronephrosis: A rare syndrome characterized by the presence of a coloboma of the eye (absence of portion of the eye structure), kidney problems and a brain anomaly (porencephaly).
  • Colorado tick encephalitis: A viral disease transmitted through the bite of ticks (Rocky Mountain wood tick and American dog tick) who are infected with the virus. Because the virus infects blood cells including erythrocytes, transmission can also occur through transfusion with infected blood but this is uncommon. Infection is most common in Canada and parts of western US. The incubation period usually lasts between 3 and 6 days but can be as long as a few weeks. The virus tends to cause to periods of fever each lasting for a few days.
  • Colpocephaly: A rare brain malformation that is present at birth. The cavities present at the back of the brain are larger than normal as the brain tissue has failed to develop normally to fill some of the space. Severity of symptoms are variable depending on the degree of abnormality.
  • Coma: Prolonged unconsciousness
  • Complex partial seizure: A complex seizure is an electrical disturbance that originates in only one part of the brain and resulting in symptoms related to the body functions or parts that are controlled by that part of the brain. Partial seizures where the patient has altered consciousness are called complex partial seizures. During a simple partial seizure movement, sensations, feelings or emotions may be affected. Partial seizures may spread to other parts of the brain and are then called generalized seizures. These seizures usually only last a few minutes.
  • Complex partial seizure disorder: Complex partial seizure disorder is an electrical disturbance that originates in only one part of the brain and resulting in symptoms related to the body functions or parts that are controlled by that part of the brain. Partial seizures where the patient has altered consciousness are called complex partial seizures. During a simple partial seizure movement, sensations, feelings or emotions may be affected. Partial seizures may spread to other parts of the brain and are then called generalized seizures. These seizures usually only last a few minutes.
  • Concussion: Brain injury causing loss of consciousness and bruising of the brain
  • Congenital brain dysgenesis due to glutamine synthetase deficiency: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in severe brain malformations and infant death within weeks of birth.
  • Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies: A rare syndrome characterized mainly by growth and mental retardation, seizures, unusual facial appearance and congenital hypoparathyroidism.
  • Congenital ichthyosis, microcephalus, quadriplegia: A rare birth disorder characterized by scaly skin, small head and paralysis of legs and arms.
  • Convulsions: Involuntary spasms especially those affecting the full body
  • Convulsions benign familial neonatal dominant form: A rare dominantly inherited type of epilepsy that occurs in newborns. The seizures can occur during sleep or while awake and may be partial or generalized.
  • Convulsions, benign familial infantile, 1: An inherited form of seizures that occurs in infancy and early childhood. Symptoms only occur during the seizures. The seizures tend to occur in clusters.
  • Convulsions, benign familial infantile, 3: An inherited form of seizures that occurs in infancy and early childhood. Symptoms only occur during the seizures. The seizures tend to occur in clusters. Type 3 is linked to a genetic defect on chromosome 2q23-q24.3.
  • Convulsions, benign familial infantile, 4: An inherited form of seizures that occurs in infancy and early childhood. Symptoms only occur during the seizures. The seizures tend to occur in clusters. Type 4 is linked to a genetic defect on chromosome 1p36.12-p35.1.
  • Corneal anesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Corneal cerebellar syndrome: A very rare syndrome involving eye problems and progressive motor control problems such as ataxia and weakness on one side of the body.
  • Corneal dystrophy -- ichthyosis -- microcephaly -- mental retardation: A very rare syndrome characterized by vision loss, scaly skin, small head and mental retardation.
  • Corneal hypesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Corpus callosum agenesis: A very rare congenital abnormality where part or all of the fibers that connect the two halves of the brain (corpus callosum) are missing.
  • Corpus callosum agenesis -- blepharophimosis -- Robin sequence: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Corpus callosum agenesis -- double urinary collecting system: 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.
  • Corpus callosum agenesis -- polysyndactyly: A rare syndrome characterized by skin and gastrointestinal defects, extra digits and skull and facial anomalies.
  • Corpus callosum agenesis double urinary collecting: 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.
  • Corpus callosum agenesis double urinary collecting system and trigonocephaly: 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.
  • Corpus callosum agenesis-neuropathy: A rare genetic disorder involving mental retardation, progressive neuropathy and absence of the fibers that connect the two halves of the brain together.
  • Corpus callosum dysgenesis X-linked recessive: Partial or complete lack of development of the structure that divides two sides of the brain (corpus callosum). As the condition is X-linked, it only occurs in males.
  • Corpus callosum dysgenesis cleft spasm: A rare condition characterized by the association of abnormal development of the part of the brain called the corpus callosum, cleft lip or palate and spasms. Variable other symptoms may also be present.
  • Corpus callosum dysgenesis hypopituitarism: A rare syndrome characterized by abnormal development of the part of the brain called the corpus callosum which separates the two halves of the brain as well as underdeveloped pituitary gland.
  • Corpus callosum, agenesis of, blepharophimosis Robin type: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Cortical dysplasia -- focal epilepsy syndrome: Abnormal development of the brain cortex which results in focal epilepsy and progressive neurological deterioration once the epilepsy starts in early childhood.
  • Corticobasal Degeneration: A rare progressive neurological disorder where parts of the brain deteriorate.
  • Craniodiaphyseal dysplasia: A very rare bone disorder where excess calcium is deposited mainly in the skull bones which can result in compression of various nerves in the skull and even the brain.
  • Craniorachischisis: A rare malformation characterized by skull and spinal bone defects which leaves the brain and the nerves in the spine exposed. The severity of the condition is variable and generally results in death before or soon after birth. Often other defects such as imperforate anus or hernia is also present.
  • Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
  • Craniosynostosis -- Dandy-Walker -- Hydrocephalus: 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.
  • Craniosynostosis -- alopecia -- brain defect: A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect.
  • Craniosynostosis Fontaine type: A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia).
  • Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus: 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.
  • Craniotelencephalic dysplasia: A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development.
  • Cree leukoencephalopathy: A rare form of brain demyelination which usually starts between 3 and 9 months of age and death occurs by 21 months.
  • Creutzfeldt-Jakob Disease: A very rare degenerative brain disease that can be inherited, transmitted (eg in surgical transplants using infected tissue) or as a result of genetic mutations. The condition is fatal.
  • Cryptococcal Meningitis: Cryptococcal meningitis is an infection of the meninges (the membranes covering the brain and spinal cord), caused by the fungus Cryptococcus neoformans.
  • Cystic leukoencephalopathy without megalencephaly: A rare genetic brain disorder characterized by the development of cystic changes in the brain resulting in neurological problems. The condition is nonprogressive.
  • Dandy Walker syndrome recessive form: A rare recessively inherited brain malformation where a cyst develops in the brain which can interfere with the drainage of cerebrospinal fluid and lead to hydrocephalus. The severity of the condition is variable and symptoms tend to only occur if the fluid builds up inside the skull.
  • Dandy-Walker -- facial hemangioma: A very rare syndrome characterized mainly by a brain malformation (Dandy-Walker) and a hemangioma on the face (mass of dilated blood vessels).
  • Dandy-Walker Syndrome: A congenital brain malformation characterized by increased fluid in the brain.
  • Dandy-Walker malformation postaxial polydactyly: A very rare syndrome where the Dandy-Walker malformation is associated with extra fingers and toes.
  • Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures: A rare X-linked syndrome characterized mainly by mental retardation and seizures.
  • Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy: A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type).
  • Dandy-Walker variant: A less severe form of a brain malformation called Dandy-Walker. The brain malformation involves the development of a cyst which may interfere with the drainage of cerebrospinal fluid and lead to hydrocephalus. Many patients don't have symptoms until adulthood or remain asymptomatic but some may be severely affected.
  • Deafness -- Opticoacoustic nerve atrophy -- dementia: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
  • Decerebrate posture as in case of brainstem transection: Patients with decorticate posturing present with the arms flexed, or bent inward on the chest, the hands are clenched into fists, and the legs extended and feet turned inward.
  • Decorticate posture: An abnormal body posture usually the result of damage to particular parts of the brain - midbrain, thalamus, internal brain capsule, cerebral hemispheres. The position involves elbows flexed inwards on the chest, clenched hands and fists and legs which are extended outwards and inwards.
  • Decorticate posture in children: An abnormal body posture occurring in children and usually the result of damage to particular parts of the brain - midbrain, thalamus, internal brain capsule, cerebral hemispheres. The position involves elbows flexed inwards on the chest, clenched hands and fists and legs which are extended outwards and inwards.
  • Decreased cerebral perfusion: compromised blood supply to the brain
  • Dejerine-Roussy syndrome: A rare neurological condition where damage to the part of the brain that controls sensation (thalamus) is damaged causing excessive pain in response to mild stimulation or reduced sensation.
  • Delirium: Severe state of mental confusion
  • Delleman-Oorthuys syndrome: A rare birth disorder characterized by eye cavity cysts, brain anomalies, facial skin tags and various other skin lesions.
  • Dementia: Various mental impairment conditions.
  • Dementia With Lewy Bodies: Second most frequent cause of dementia in elderly adults.
  • Dementia, familial British: A rare, early-onset inherited form of dementia caused by deposits of amyoid substances (amyloid) and degenerative nerve changes in the brain.
  • Dementia, familial Danish: A rare inherited form of dementia caused by the deposit of abnormal substances in the brain, spinal cord and retina and the degeneration of brain tissue. Deafness and cataracts usually started in the 20's with severe deafness occurring by the age of 45. Movement problems usually started after the age of 40 with death occurring in the 5th or 6th decade.
  • Dentatorubral Pallidoluysian Atrophy: A condition caused by an abnormality of the DNA sequence on chromosome 12
  • Dermatoleukodystrophy: A very rare progressive brain disease associated with thick wrinkled skin. Only two reported cases with both dying within three years of birth.
  • Desmoplastic cerebral astrocytoma of infancy: A rare type of brain tumor that occurs in infants. The tumor consists of cancerous astrocytes.
  • Desmoplastic infantile ganglioma: A rare type of brain tumor that occurs in infants. The tumor may be slow-growing and benign or fast-growing and malignant.
  • Developmental delay -- epilepsy -- neonatal diabetes: A rare syndrome characterized mainly by developmental delay, epilepsy and early-onset diabetes.
  • Dextrocardia -- microphthalmia -- cleft palate -- intellectual deficit: A rare disorder characterized by small eyes, cleft palate, impaired intelligence and a heart anomaly where the heart is abnormally situated in the right side of the body (dextrocardia).
  • Diabetes mellitus, permanent neonatal -- pancreatic and cerebellar agenesis: A rare syndrome characterized by the abnormal development of the cerebellum and pancreas which results in diabetes mellitus.
  • Dialysis encephalopathy syndrome: A progressive brain disease that occurs in some patients who undergo chronic hemodialysis. Aluminium intoxication is believed to play a role in the disease.
  • Diaphragmatic hernia -- exomphalos -- corpus callosum agenesis: A very rare syndrome characterized mainly by a diaphragmatic hernia (defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity), brain development abnormalities and deafness.
  • Diencephalic Syndrome: A condition characterized by dysfunction of the diencphalon of the brain
  • Diencephalic syndrome of infancy: A rare syndrome usually caused by a brain tumor located near the hypothalamus and results in symptoms such as low blood sugar, pale skin and loss of skin fat and failure to thrive.
  • Digitorenocerebral syndrome: A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment.
  • Dincsoy-Salih-Patel syndrome: A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities.
  • Dionisi-Vici-Sabetta-Gambarara syndrome: A very rare syndrome characterized mainly by brain abnormality, cataract and immunodeficiency.
  • Diprosopia: A very rare syndrome characterized by various facial anomalies, anencephaly and cleft lip and palate.
  • Double cortex syndrome: A rare brain development disorder which causes mental retardation and epilepsy. An extra layer of nerves develops under the brain cortex.
  • Down's Syndrome associated Alzheimer's disease: Early-onset Alzheimer's is more prevalent in Down's Syndrome sufferers than in the general population. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Drop attacks as seen in stroke: Sudden spontaneous falls while standing or walking, with complete recovery in seconds or minutes.
  • Dysarthria: Dysarthria is a motor speech disorder characterized by difficulty forming and expressing words that is the result of injury to or pathology of the nervous system.
  • Dysgraphia: Difficulty with writing.
  • Dyslexia: Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to be related to problems with perception capability in certain parts of the brain. Researchers have discovered that there are a number of genes linked to an increased susceptibility to dyslexia.
  • Dysphasia: Dysphasia refers to difficulty swallowing.
  • Dysphasic dementia, hereditary: An inherited form of dementia caused by nerve degeneration.
  • Dysplastic cortical hyperostosis: A very rare syndrome characterized mainly by abnormal bone and brain development.
  • Dystonia with cerebellar atrophy: A recessively inherited movement disorder (dystonia) which responds poorly to Levodopa treatment and involves wasting of part of the brain.
  • Dystonia-Parkinsonism, Adult-Onset: A rare condition characterized by the association of parkinsonism and dystonia due to a neurodegenerative disorder which progresses quickly.
  • Dystonias: Muscle problems causing movement disorders
  • Early-onset Alzheimer's: Early-onset Alzheimer's is a form of Alzheimer's disease that is linked to genetic defects or occurs in a familial pattern. It is not as common as the non-inherited form of Alzheimer's - occurs in up to 90% of Alzheimer sufferers. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Early-onset non-progressive cerebellar ataxia syndrome, dominantly inherited: A rare, dominantly inherited disorder that starts early in life and is characterized by non-progressive incoordination.
  • Eastern equine encephalitis: Is a mosquito born virus that occurs in the eastern united states and causes disease in humans, horses and some birds
  • Ectodermal dysplasia -- mental retardation -- CNS malformation: A rare syndrome characterized mainly by mental retardation, central nervous system disorders and skin, hair and nail abnormalities.
  • Ectodermal dysplasia -- mental retardation -- central nervous system malformation: A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities.
  • Ehlers-Danlos syndrome with periventricular heterotopia: The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome.
  • Embolism: Blockage of an artery or blood vessel
  • Empty Sella Syndrome: Congenital defect of the brain.
  • Encephalitis: Dangerous infection of the brain
  • Encephalitis lethargica: A rare brain disease characterized by fever, headache, lethargy and reduced physical and mental responses. The disease occurred as an epidemic in the 1920's but now occurs sporadically - the exact cause is still not known.
  • Encephalitis, California serogroup viral: A mosquito borne viral illness
  • Encephalo cranio cutaneous lipomatosis: A rare genetic disorder characterized by craniofacial lipomas, cerebral atrophy and patches of alopecia.
  • Encephalocele anterior: Protrusion of a portion of the brain tissue through a skull defect in the anterior portion of the skull. The severity of symptoms depends on the exact location and size of the deformity.
  • Encephalocele frontal: Protrusion of a portion of the frontal brain tissue through a skull defect. The severity of symptoms depends on the exact location and size of the deformity.
  • Encephaloceles: Improper protrusions of parts of the meninges and brain.
  • Encephalomyelitis: Inflammation of the brain and spinal cord.
  • Encephalopathy -- intracranial calcification -- growth hormone deficiency -- microcephaly -- retinal degeneration: A rare condition characterized mainly by brain disease, poor growth due to a deficiency of growth hormone, a small head and vision impairment.
  • Encephalopathy due to GLUT1 deficiency: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Encephalopathy due to sulphite oxidase deficiency: An inborn error of metabolism where an enzyme (sulphite oxidase) deficiency results in encephalopathy. Symptoms usually start at birth.
  • Encephalopathy progressive -- optic atrophy: A rare birth disorder characterized by progressive brain disease, facial anomalies and eye problems.
  • Encephalopathy, familial, with neuroserpin inclusion bodies: A rare neurodegenerative disorder involving brain disease due to a genetic chemical abnormality which results in the abnormal deposit of neuroserpin inclusion bodies which is harmful to the nerves.
  • Encephalophathy recurrent of childhood: A recurring form of brain disease that has been noted to occur within families. The condition appears to be inherited in an autosomal dominant manner in these families. Symptoms tend to have a recurring nature and can last for periods of days to weeks. The condition is believed to be an inherited predisposition with underlying immunological or metabolic problems which trigger the condition.
  • Endocrine-Cerebroosteodysplasia: A rare condition observed in six members from two families. The condition is severe with all affected individuals dying before, during or soon after birth. A number of the pregnancies were voluntarily terminated due to the detected malformations. Endocrine-Cerebroosteodysplasia primarily involves brain, skeletal and endocrine abnormalities.
  • Eosinophilic meningitis: Eosinophilic meningitis is a distinct clinical entity that may have infectious and noninfectious causes. Worldwide, infection with the helminthic parasite, Angiostrongylus cantonensis, is the most common infectious etiology.
  • Ependymoma: A tumor that occurs in the central nervous system (brain and spinal cord). Symptoms vary according to the aggressiveness, size and exact location of the tumor.
  • Epilepsy: Brain condition causing seizures or spasms.
  • Epilepsy -- mental deterioration, Finnish type: A rare disorder that occurs predominantly in people of Finnish origin and is characterized by the association of epilepsy with mental retardation.
  • Epilepsy -- microcephaly -- skeletal dysplasia: A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities.
  • Epilepsy -- telangiectasia: A rare syndrome characterized by the association of epilepsy with telangiectasias on the conjunctiva of the eyelids.
  • Epilepsy benign neonatal dominant form: A recessively inherited form if seizures that starts during early infancy.
  • Epilepsy benign neonatal recessive form: A recessively inherited form if seizures that starts during early infancy.
  • Epilepsy juvenile absence: A rare form of epilepsy that occurs around the time of puberty. Generalized tonic-clonic seizures occur when waking up and myoclonic seizures can also occur.
  • Epilepsy occipital calcifications: A rare disorder characterized by calcification of the occipital part of the brain, epilepsy. Celiac disease is also usually associated with the disorder.
  • Epilepsy with myoclonic absences: A epileptic disorder which involves uncontrollable, rhythmic jerks of the limb.
  • Epilepsy with myoclonic-astatic crisis: A form of childhood epilepsy which is associated with a sudden loss of muscle tone which often results in the sufferer falling over and possibly injuring themselves.
  • Epilepsy, Benign Neonatal: A condition characterized by clusters of seizures usually during the first days of life. The seizures are harmless and tend to resolve spontaneously during the first year though many cases resolve by 6 weeks of age. The seizures are not necessary associated with fevers but they can be. There are various subtypes of the condition, each with a different origin of the genetic defect.
  • Epilepsy, Benign Neonatal, 1: A condition characterized by clusters of seizures usually during the first days of life. The seizures are harmless and tend to resolve spontaneously during the first year though many cases resolve by 6 weeks of age. The seizures are not necessary associated with fevers but they can be. There are various subtypes of the condition, each with a different origin of the genetic defect. Type 1 is linked to a genetic defect on chromosome 20q13.3.
  • Epilepsy, Benign Neonatal, 2: A condition characterized by clusters of seizures usually during the first days of life. The seizures are harmless and tend to resolve spontaneously during the first year though many cases resolve by 6 weeks of age. The seizures are not necessary associated with fevers but they can be. There are various subtypes of the condition, each with a different origin of the genetic defect. Type 2 is linked to a genetic defect on chromosome 8q24.
  • Epilepsy, Benign Neonatal, 3: A condition characterized by clusters of seizures usually during the first days of life. The seizures are harmless and tend to resolve spontaneously during the first year though many cases resolve by 6 weeks of age. The seizures are not necessary associated with fevers but they can be. There are various subtypes of the condition, each with a different origin of the genetic defect. Type 3 is linked to a genetic defect on chromosome 5.
  • Epilepsy, Benign Neonatal, Autosomal Recessive: A condition characterized by clusters of seizures usually during the first days of life. The seizures are harmless and tend to resolve spontaneously during the first year though many cases resolve by 4 months of age. The seizures are not necessary associated with fevers but they can be. There are various subtypes of the condition, each with a different origin of the genetic defect. Type 3 is linked to a genetic defect on chromosome 5.
  • Epilepsy, Childhood Absence, Susceptibility to, 1: A susceptibility to childhood absence seizures linked to a particular gene - 8q24.
  • Epilepsy, Childhood Absence, Susceptibility to, 2: A susceptibility to childhood absence seizures linked to a particular gene - 5q31.1.
  • Epilepsy, Childhood Absence, Susceptibility to, 3: A susceptibility to childhood absence seizures linked to a particular gene - 3q26.
  • Epilepsy, Childhood Absence, Susceptibility to, 4: A susceptibility to childhood absence seizures linked to a particular gene - 5q34.
  • Epilepsy, Childhood Absence, Susceptibility to, 5: A susceptibility to childhood absence seizures linked to a particular gene - 15q11-q12.
  • Epilepsy, Childhood Absence, Susceptibility to, 6: A susceptibility to childhood absence seizures linked to a particular gene - 16p13.
  • Epilepsy, Idiopathic Generalized, Susceptibility to, 10: A susceptibility to epilepsy linked to a particular gene - 1p36.3.
  • Epilepsy, Idiopathic Generalized, Susceptibility to, 11: A susceptibility to epilepsy linked to a particular gene - 3q26.
  • Epilepsy, Idiopathic Generalized, Susceptibility to, 7: An increased risk of generalized epilepsy associated with a defect in the CACNA1H gene on chromosome 15q14.
  • Epilepsy, Idiopathic Generalized, Susceptibility to, 8: A susceptibility to epilepsy linked to a particular gene - 3q13.3-q21.
  • Epilepsy, Idiopathic Generalized, Susceptibility to, 9: A susceptibility to epilepsy linked to a particular gene - 2q22-q23.
  • Epilepsy, Juvenile Absence, Susceptibility to, 1: A susceptibility to juvenile absence seizures linked to a particular gene - 6p12-p11.
  • Epilepsy, Juvenile Absence, Susceptibility to, 2: A susceptibility to juvenile absence seizures linked to a particular gene - 3q26.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 1: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 6p12-p11.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 2: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 15q14.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 3: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 6p21.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 4: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 5q12-q14.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 5: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 5q34-q35.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 6: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 2q22-q23.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 7: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 1p36.3.
  • Epilepsy, Juvenile Myoclonic, Susceptibility to, 8: A susceptibility to juvenile myoclonic seizures linked to a particular gene - 3q26.
  • Epilepsy, Pyridoxine-Dependent: A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication.
  • Epilepsy, X-linked -- learning disabilities -- behavior disorders: An inherited syndrome characterized by epilepsy, behavioral disorders and learning disability. Patients may suffer various combinations of the disorder. The onset of seizures can vary from childhood to adulthood.
  • Epilepsy, benign familial neonatal: A rare inherited type of epilepsy that occurs in newborns. The seizures can occur during sleep or while awake and may be partial or generalized.

 

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