Dystonia 12

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the ATP1A3 gene, encoding sodium/potassium-transporting ATPase subunit alpha-3. It is characterized by abrupt onset of dystonia and parkinsonism in young adulthood, often triggered by physical or psychological stress.

**Synonyms:** - DYT12 - Rapid-Onset Dystonia-Parkinsonism