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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/2132180242 / rank | |||||||||||||||
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CID11:8A01.10 | |||||||||||||||
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dki-india-8A01.10 | |||||||||||||||
| Property / Canary Token: dki-india-8A01.10 / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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| Property / Linked ICD 10: G10 / rank | |||||||||||||||
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Latest 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. |
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CID11:8A01.10
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dki-india-8A01.10
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Concluído
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13 August 2026
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