congenital myasthenic syndrome 5
ORPHA: 98915
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 syndrome 5, sourced from HPO and Orphanet clinical annotations.
Generalized muscle weaknessEMG: decremental response of compound muscle action potential to repetitive nerve stimulationProximal muscle weaknessNeck muscle weaknessPtosisOphthalmoparesisHypotoniaGlobal developmental delayHyporeflexiaBilateral ptosisWeak cryDysphagiaPoor suckRespiratory insufficiencyRespiratory distressPoor head controlDistal muscle weaknessWaddling gaitMyopathyAbnormal synaptic transmission at the neuromuscular junctionProlonged miniature endplate currentsDecreased size of nerve terminalsScapular wingingFacial palsyAbnormal circulating enzyme concentration or activityUnfavorable response of muscle weakness to acetylcholine esterase inhibitorsHigh palateIntellectual disabilityAreflexiaMuscle weaknessNeonatal respiratory distressScoliosisRecurrent lower respiratory tract infectionsHypoventilationAbnormality of the kneeSkeletal muscle atrophyAxial muscle weaknessEasy fatigabilityType 1 muscle fiber predominanceImpaired masticationLimited extraocular movementsSleep apneaSlow pupillary light responseTriangular mouthMandibular prognathiaRight ventricular hypertrophyTalipes equinovarusAbnormal facial shapePulmonary arterial hypertensionFrequent fallsExertional dyspneaType 2 muscle fiber atrophyLimited wrist extensionHand muscle weakness
Classification & Codes
Orphanet Code
ORPHA:98915congenital myasthenic syndrome 5
| Orphanet | ORPHA:98915 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO