progressive myoclonic epilepsy type 3
ORPHA: 263516
Overview
human disease
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 type 3, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityDysarthriaMyoclonusDevelopmental regressionProgressive truncal ataxiaProgressive psychomotor deteriorationFocal myoclonic seizureFocal EEG discharges with secondary generalizationMicrocephalyAbnormality of visionOptic atrophyDementiaCerebellar atrophyPhotosensitive myoclonic seizureCerebral atrophyBilateral tonic-clonic seizureProgressive cerebellar ataxiaFebrile seizure (within the age range of 3 months to 6 years)Aplasia/Hypoplasia of the corpus callosumEEG with focal epileptiform dischargesChin myoclonusLimb myoclonus
Classification & Codes
Orphanet Code
ORPHA:263516progressive myoclonic epilepsy type 3
| Orphanet | ORPHA:263516 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO