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Dystonia 12 [Supplementary Concept]

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 introduced: August 25, 2010

MeSH Unique ID: C538001

Heading Mapped to:

Entry Terms:

  • Rapid-onset dystonia-parkinsonism
  • Dystonia-Parkinsonism, Rapid-Onset
  • Rapid-Onset Dystonia Parkinsonism
  • Dyt12

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