episodic kinesigenic dyskinesia 1

A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.

Signs and symptoms

• Paroxysmal dystonia
• Orofacial dyskinesia
• Paroxysmal choreoathetosis
• Infantile spasms
• Seizure

Also known as: Paroxysmal kinesigenic choreoathetosis