Huntington's disease
rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia
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Summary
Huntington's disease is a designated intractable/rare disease[1]. It ranks in the top 2% of designated intractable rare disease entities by monthly Wikipedia readership (28,747 views/month).[2]
Key Facts
- Discoverer or inventor: George Huntington[3]
- Instance of: rare disease[4], class of disease[5], symptom or sign[6]
- Named after: George Huntington[7]
- Subclass of: neurodegeneration[8], Huntington disease and related disorders[9], eye degenerative disease[10], genetic neurodegenerative disease with dementia[11], trinucleotide repeat disorder[12]
- Commons category: Huntington's disease[13]
- Time of discovery or invention: April 13, 1872[14]
- ICPC 2 ID: P70[15]
- Symptoms and signs: personality change[16], choreatic disease[17], weight loss[18], dementia[19]
- Has cause: trinucleotide repeat expansion[20]
- Topic's main category: Category:Huntington's disease[21]
- Medical examination: genetic testing[22]
- Described at URL: https://lirh.it/it/come-si-manifesta-la-malattia-di-huntington[23]
- Prevalence: 0.000123[24]
- Mode of inheritance: autosomal dominant[25]
- External data available at URL: http://www.nanbyou.or.jp/entry/175[26]
- Described by source: The Unified Medical Dictionary (Librairie du Liban, 2009)[27]
- ICD-9-CM: 333.4[28]
- NCI Thesaurus ID: C82342[29]
- Health specialty: neurology[30]
- Drug or therapy used for treatment: pimozide[31], (RS)-baclofen[32], perphenazine[33], ubidecarenone[34], tetrabenazine[35]
- Genetic association: HTT[36]
- Exact match: http://purl.obolibrary.org/obo/DOID_12858[37], http://identifiers.org/doid/DOID:12858[38], http://www.orpha.net/ORDO/Orphanet_248111[39], http://www.orpha.net/ORDO/Orphanet_399[40]
Why It Matters
Huntington's disease has Wikipedia articles in 30 language editions, a strong signal of global cultural recognition.[41] It is known by 99 alternative names across languages and contexts.[42]