episodic kinesigenic dyskinesia 1

Term ID

DOID:0090053

Synonyms

• Paroxysmal kinesigenic choreoathetosis

Definition

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. (2)

References

• GARD:8721
• ICD10CM:G24.8
• OMIM:128200
• ORDO:98809

Ontology

Human Disease   ( DOID:0090053 )