childhood onset GLUT1 deficiency syndrome 2
MeSH: C564288ORPHA: 98811
Overview
Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities
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 childhood onset GLUT1 deficiency syndrome 2, sourced from HPO and Orphanet clinical annotations.
ChoreoathetosisDystoniaParoxysmal dyskinesiaIntellectual disabilitySeizureTorsion dystoniaGeneralized non-motor (absence) seizureParesthesiaInvoluntary movementsHyperactive deep tendon reflexesAggressive behaviorIrritabilityAtaxiaSpecific learning disabilityChoreaMild intellectual disabilityLower limb spasticity
Classification & Codes
MeSH Code
C564288Orphanet Code
ORPHA:98811childhood onset GLUT1 deficiency syndrome 2
| MeSH | C564288 |
| Orphanet | ORPHA:98811 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO