progressive myoclonic epilepsy with dystonia
ORPHA: 352596
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 progressive myoclonic epilepsy with dystonia, sourced from HPO and Orphanet clinical annotations.
DystoniaMyoclonusRecurrent upper respiratory tract infectionsAbnormal pyramidal signMicrocephalyEEG with irregular generalized spike and wave complexesGeneralized myoclonic seizureStatus epilepticusDelayed CNS myelinationDevelopmental regressionGeneralized neonatal hypotoniaFeeding difficultiesEpileptic encephalopathyExcessive daytime somnolenceGlobal developmental delayHemiparesisAbnormality of extrapyramidal motor functionHemiplegiaDiffuse cerebral atrophyPoor visual behavior for ageDiffuse cerebellar atrophyOptic atrophy
Classification & Codes
Orphanet Code
ORPHA:352596progressive myoclonic epilepsy with dystonia
| Orphanet | ORPHA:352596 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO