Conditions / Genetic
paroxysmal nonkinesigenic dyskinesia 1
info · Genetic · ICD-10: G24.8
A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo
A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35.
Signs and symptoms
- Paroxysmal choreoathetosis
- Torticollis
- Dysphagia
- Myokymia
- Paroxysmal dystonia
- Dysarthria
- Facial grimacing