episodic kinesigenic dyskinesia 1
ORPHA: 98809
Overview
dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in heterozygous mutation in the PRRT2 gene on chromosome 16p11
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with episodic kinesigenic dyskinesia 1, sourced from HPO and Orphanet clinical annotations.
DystoniaChoreaAthetosisInvoluntary movementsDyskinesiaFocal sensory seizureSeizureMigraineWriter's cramp
Classification & Codes
Orphanet Code
ORPHA:98809episodic kinesigenic dyskinesia 1
| Orphanet | ORPHA:98809 |
| Treatments | 0 drug(s) |
| Symptoms on record | 9 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO