Huntington disease (Q41023): Difference between revisions
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Doença de Huntington (DH) é um transtorno neurodegenerativo raro do sistema nervoso central. DH é um transtorno autossômico dominante devido a mutação resultando no aumento do número de repetições do trinucleótido citosina-adenina-guanina no cromossoma 4. As manifestações incluem coreia, demência e alterações de personalidade. Na variante de Westphal, distonia e parkinsonismo são proeminentes. Neuroimagem revela atrofia do caudado. O teste genético está disponível e pode facilitar a detecção pré-sintomática. | |||
| description / en | description / en | ||
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. | |||
Revision as of 07:04, 13 August 2026
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 |
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| 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. |
