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Heredodegenerative Disorders, Nervous System

Categorical breakdown of terms falling inder the category of Heredodegenerative Disorders, Nervous System. Sub categories will become more specific in nature to the terms listed for Heredodegenerative Disorders, Nervous System.

Sub-Categories

• Alexander Disease
• Amyloid Neuropathies, Familial
• Bulbo-Spinal Atrophy, X-Linked
• Canavan Disease
• Cockayne Syndrome
• Dystonia Musculorum Deformans
• Gerstmann-Straussler-Scheinker Disease
• Hepatolenticular Degeneration
• Pantothenate Kinase-Associated Neurodegeneration
• Hereditary Central Nervous System Demyelinating Diseases
• Hereditary Sensory and Motor Neuropathy
  • Alstrom Syndrome
  • Charcot-Marie-Tooth Disease
  • Giant Axonal Neuropathy
  • Refsum Disease
  • Spastic Paraplegia, Hereditary
• Hereditary Sensory and Autonomic Neuropathies
  • Dysautonomia, Familial
• Huntington Disease
• Lafora Disease
• Lesch-Nyhan Syndrome
• Menkes Kinky Hair Syndrome
• Myotonia Congenita
• Myotonic Dystrophy
• Neurofibromatoses
  • Neurofibromatosis 1
  • Neurofibromatosis 2
• Neuronal Ceroid-Lipofuscinoses
• Optic Atrophies, Hereditary
  • Optic Atrophy, Autosomal Dominant
  • Optic Atrophy, Hereditary, Leber
  • Wolfram Syndrome
• Rett Syndrome
• Spinal Muscular Atrophies of Childhood
• Spinocerebellar Degenerations
  • Friedreich Ataxia
  • Myoclonic Cerebellar Dyssynergia
  • Olivopontocerebellar Atrophies
  • Spinocerebellar Ataxias
    • Machado-Joseph Disease
• Tourette Syndrome
• Tuberous Sclerosis
• Unverricht-Lundborg Syndrome

Terms

Alexander Disease - A rare inherited disorder of myelin formation. Alexander disease is a progressive leukoencephalopath...

Alstrom Syndrome - Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical featu...

Amyloid Neuropathies, Familial - Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in ne...

Bulbo-Spinal Atrophy, X-Linked - An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding ...

Canavan Disease - A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolizati...

Charcot-Marie-Tooth Disease - A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and ...

Cockayne Syndrome - A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISOR...

Dysautonomia, Familial - An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashk...

Dystonia Musculorum Deformans - A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of...

Friedreich Ataxia - An autosomal recessive disease, usually of childhood onset, characterized pathologically by degenera...

Gerstmann-Straussler-Scheinker Disease - An autosomal dominant familial prion disease with a wide spectrum of clinical presentations includin...

Giant Axonal Neuropathy - Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutati...

Hepatolenticular Degeneration - A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CO...

Hereditary Central Nervous System Demyelinating Diseases - Inherited conditions characterized by a loss of myelin in the central nervous system....

Hereditary Sensory and Autonomic Neuropathies - A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion c...

Hereditary Sensory and Motor Neuropathy - A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Sub...

Heredodegenerative Disorders, Nervous System - Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiolo...

Huntington Disease - A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progr...

Lafora Disease - A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The m...

Lesch-Nyhan Syndrome - An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of p...

Machado-Joseph Disease - A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subse...

Menkes Kinky Hair Syndrome - An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the...

Myoclonic Cerebellar Dyssynergia - A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in th...

Myotonia Congenita - A dominantly inherited muscle disease that begins in early childhood and is characterized by severe ...

Myotonic Dystrophy - An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterize...

Neurofibromatoses - A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates o...

Neurofibromatosis 1 - An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that featu...

Neurofibromatosis 2 - An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as w...

Neuronal Ceroid-Lipofuscinoses - A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluo...

Olivopontocerebellar Atrophies - A group of inherited and sporadic disorders which share progressive ataxia in combination with atrop...

Optic Atrophies, Hereditary - Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relati...

Optic Atrophy, Autosomal Dominant - Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color visio...

Optic Atrophy, Hereditary, Leber - A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision l...

Pantothenate Kinase-Associated Neurodegeneration - A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolesc...

Refsum Disease - An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SEN...

Rett Syndrome - An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and ma...

Spastic Paraplegia, Hereditary - A group of inherited diseases that share similar phenotypes but are genetically diverse. Different g...

Spinal Muscular Atrophies of Childhood - A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. T...

Spinocerebellar Ataxias - A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divide...

Spinocerebellar Degenerations - A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either i...

Tourette Syndrome - A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission in...

Tuberous Sclerosis - An autosomal dominant disorder which is generally classified as a phacomatosis. Pathologically, the ...

Unverricht-Lundborg Syndrome - An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAX...

Wolfram Syndrome - A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIA...

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