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