X-linked dystonia-parkinsonism
focal dystonia characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has material basis in an SVA retrotransposon insertion in the intron of the TAF1 gene on chromosome Xq13.1
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Summary
X-linked dystonia-parkinsonism is a rare disease[1]. It draws 323 Wikipedia views per month (rare disease category, ranking #225 of 627).[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: dystonia[4], focal dystonia[5], parkinsonian syndrome[6], persistent combined dystonia[7], rare parkinsonian syndrome due to genetic neurodegenerative disease[8], X-linked recessive disease[9]
- Prevalence: 0.000001[10]
- NCI Thesaurus ID: C126330[11]
- Health specialty: neurology[12]
- Genetic association: TAF1[13]
- Age of onset: adult onset[14]
- Exact match: http://purl.obolibrary.org/obo/DOID_0090057[15], http://identifiers.org/doid/DOID:0090057[16]
- On focus list of Wikimedia project: WikiProject Medicine[17]
- Has phenotype: blepharospasm[18], torsion dystonia[19], myoclonus[20], hypokinesia[21], choreatic disease[22], focal dystonia[23], gait abnormality[24], Q141815169[25], laryngospasm[26], aspiration pneumonia[27], Impaired oropharyngeal swallow response[28]
- P14914: D53351[29]
Why It Matters
X-linked dystonia-parkinsonism is known by 15 alternative names across languages and contexts.[30]