spinal muscular atrophy with progressive myoclonic epilepsy
MeSH: C537563ORPHA: 2590
Overview
rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting
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 spinal muscular atrophy with progressive myoclonic epilepsy, sourced from HPO and Orphanet clinical annotations.
SeizureMyoclonusAbnormal lower motor neuron morphologyFunctional motor deficitLower limb muscle weaknessAbnormal circulating enzyme concentration or activityAtypical behaviorTremorRecurrent aspiration pneumoniaGeneralized myoclonic seizureClumsinessFrequent fallsRespiratory insufficiency due to muscle weaknessAtonic seizureTypical absence seizureSensorineural hearing impairmentMental deteriorationHigh-frequency sensorineural hearing impairmentWaddling gaitInability to walkScoliosisRespiratory failureEyelid myoclonusBilateral tonic-clonic seizure with generalized onsetMyoclonic status epilepticusLimb myoclonusIntellectual disabilityDysphagiaGait disturbance
Classification & Codes
MeSH Code
C537563Orphanet Code
ORPHA:2590spinal muscular atrophy with progressive myoclonic epilepsy
| MeSH | C537563 |
| Orphanet | ORPHA:2590 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO