postsynaptic congenital myasthenic syndrome
ORPHA: 98913
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 postsynaptic congenital myasthenic syndrome, sourced from HPO and Orphanet clinical annotations.
Muscle weaknessHigh palateAbnormality of eye movementPtosisOphthalmoparesisReduced tendon reflexesAbnormality of the musculature of the upper limbsSkeletal muscle atrophyEasy fatigabilityDecreased miniature endplate potentialsEMG: decremental response of compound muscle action potential to repetitive nerve stimulationDecreased size of nerve terminalsEMG: myopathic abnormalitiesUpper limb muscle weaknessShoulder girdle muscle weaknessNeck flexor weaknessType 1 muscle fiber predominanceWeakness of the intrinsic hand musclesFacial palsyFatigable weakness of neck musclesAbnormality of masticatory muscleDiplopiaCyanosisRestrictive ventilatory defectDelayed gross motor developmentDrowsinessScoliosisReduced vital capacityExertional dyspneaRespiratory failureThoracic kyphoscoliosisWeakness of long finger extensor musclesHip flexor weaknessOrthopneaFatigable weakness of respiratory musclesTriceps weaknessAnkle weakness
Classification & Codes
Orphanet Code
ORPHA:98913postsynaptic congenital myasthenic syndrome
| Orphanet | ORPHA:98913 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO