dystonia-12 (rapid-onset dystonia parkinsonism)
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Genetics
- autosomal dominant
- associated with defects in ATP1A3
Clinical manifestations
- dystonia-parkinsonism characterized by an unusually rapid evolution of signs & symptoms
- affected persons develop dystonia & parkinsonism 14-45 years of age
- sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability