Huntington disease (Q41023)
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Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system. HD is an autosomal dominant disorder due to a mutation resulting in an increased number of triplicate cytosine-adenine-guanine repeats on chromosome 4. The manifestations include chorea, dementia and personality changes. In the Westphal variant dystonia and parkinsonism are prominent. Neuroimaging reveals caudate atrophy. A genetic test is available and may facilitate presymptomatic detection.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A01.10 |
||
| English | Huntington disease |
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system. HD is an autosomal dominant disorder due to a mutation resulting in an increased number of triplicate cytosine-adenine-guanine repeats on chromosome 4. The manifestations include chorea, dementia and personality changes. In the Westphal variant dystonia and parkinsonism are prominent. Neuroimaging reveals caudate atrophy. A genetic test is available and may facilitate presymptomatic detection. |
