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Dystonia 12 MeSH Supplementary Concept Data 2024


MeSH Supplementary
Dystonia 12
Unique ID
C538001
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C538001
Entry Term(s)
Dystonia-Parkinsonism, Rapid-Onset
Dyt12
Rapid-Onset Dystonia Parkinsonism
Rapid-onset dystonia-parkinsonism
Registry Number
0
Heading Mapped to
*Dystonic Disorders
Frequency
43
Note
A hereditary autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction. Mutations in the ATP1A3 gene have been identified. OMIM: 128235
Date of Entry
2010/08/25
Revision Date
2015/08/18
Dystonia 12 Preferred
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