congenital myasthenic syndromes with glycosylation defect
ORPHA: 353327
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 congenital myasthenic syndromes with glycosylation defect, sourced from HPO and Orphanet clinical annotations.
High palateMotor delayAreflexiaGeneralized hypotoniaPes planusMyopathyLimb-girdle muscle weaknessEMG: decremental response of compound muscle action potential to repetitive nerve stimulationFatigable weaknessProximal muscle weaknessAbnormal peripheral nervous system synaptic transmissionFavorable response of weakness to acetylcholine esterase inhibitorsIncreased jitter at single fiber EMGMuscle fiber tubular inclusionsPtosisGait disturbanceFlexion contractureJoint hypermobilityFrequent fallsPoor head controlWaddling gaitScoliosisLumbar hyperlordosisRagged-red muscle fibersElevated circulating creatine kinase concentrationEasy fatigabilityGowers signMuscle spasmDifficulty climbing stairsScapular wingingType 1 muscle fiber predominanceKnee flexion contractureGeneralized weakness of limb musclesDifficulty runningFacial palsyDistal muscle weakness
Classification & Codes
Orphanet Code
ORPHA:353327congenital myasthenic syndromes with glycosylation defect
| Orphanet | ORPHA:353327 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO