dystonia 12

A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3)

A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.

Signs and symptoms

• Bulbar signs
• Torticollis
• Mutism
• Dysphagia
• Parkinsonism
• Bradykinesia
• Dystonia
• Dysarthria
• Postural instability
• Depression