| | Disease Ontology | MeSH |
| Disease ID: | DOID:12858 | D006816 |
| Disease Name: | Huntington's disease | Huntington Disease |
| Category: | Disease Ontology | MeSH |
| Type: | | Nervous System Diseases |
| Define: | A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. | A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) |
| Alias: | HD//Huntington disease//Huntington's chorea | Huntington Disease//Huntington Chorea//Chorea, Huntington//Huntington's Disease//Chronic Progressive Hereditary Chorea (Huntington)//Huntington Chronic Progressive Hereditary Chorea//Progressive Chorea, Chronic Hereditary (Huntington)//Progressive Chorea, Hereditary, Chronic (Huntington)//Huntington's Chorea//Chorea, Huntington's//Chorea, Chronic Progressive Hereditary (Huntington)//Huntington Disease, Late Onset//Late-Onset Huntington Disease//Huntington Disease, Late-Onset//Late Onset Huntington Disease//Juvenile Huntington Disease//Juvenile-Onset Huntington Disease//Juvenile Onset Huntington Disease//Huntington Disease, Juvenile-Onset//Huntington Disease, Juvenile Onset//Huntington Disease, Juvenile//Akinetic-Rigid Variant of Huntington Disease//Akinetic Rigid Variant of Huntington Disease//Huntington Disease, Akinetic-Rigid Variant//Huntington Disease, Akinetic Rigid Variant |
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