paroxysmal nonkinesigenic dyskinesia 1
ORPHA: 98810
Overview
dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in heterozygous mutation in the MR1 gene on chromosome 2q35
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 paroxysmal nonkinesigenic dyskinesia 1, sourced from HPO and Orphanet clinical annotations.
DystoniaParoxysmal dyskinesiaChoreoathetosisChoreaHyperkinetic movementsInvoluntary movementsTrismusTorticollisJoint stiffnessRigidityDyspneaAbnormal speech patternGeneralized muscle weaknessStaring gazeDyskinesia
Classification & Codes
Orphanet Code
ORPHA:98810paroxysmal nonkinesigenic dyskinesia 1
| Orphanet | ORPHA:98810 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO