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:

• Dystonic Disorders

Entry Terms:

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