Visualize Submit Comment
Metadata
ID DOID:0090053
Name episodic kinesigenic dyskinesia 1
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.
https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia, https://www.omim.org/entry/128200
Xrefs

GARD:8721

ICD10CM:G24.8

OMIM:128200

ORDO:98809

Synonyms

Paroxysmal kinesigenic choreoathetosis [EXACT]

Parent Relationships

is_a dystonia

Add an item to the term tracker