" /> Dystonia 12 - CISMeF





Preferred Label : Dystonia 12;

NCIt synonyms : DYT12; Rapid-Onset Dystonia-Parkinsonism;

NCIt 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.;

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02/05/2025


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