congenital myasthenic syndrome
MeSH: D020294ORPHA: 590
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, sourced from HPO and Orphanet clinical annotations.
Hypernasal speechRecurrent respiratory infectionsArthrogryposis multiplex congenitaNeck muscle weaknessPtosisDysphagiaPoor suckSudden episodic apneaFatigable weaknessProximal muscle weaknessFrontalis muscle weaknessIntermittent episodes of respiratory insufficiency due to muscle weaknessFeeding difficultiesOphthalmoplegiaCyanosisIntellectual disabilityAtaxiaBulbar palsyDecreased fetal movementApneic episodes precipitated by illness, fatigue, stressGeneralized muscle weaknessEasy fatigabilityEpisodic respiratory distressNeuropathic spinal arthropathyCentral sleep apneaNasal regurgitationChoking episodesEMG: impaired neuromuscular transmissionMuscle fiber atrophyHigh palateLong faceSeizureHypotoniaMotor delayAreflexiaWeak cryDysphoniaPes cavusPoor head controlWaddling gaitKyphoscoliosisSpinal rigidityLimb-girdle muscle weaknessEMG: myopathic abnormalitiesDistal amyotrophyDistal lower limb muscle weaknessStridorNarrow jawTip-toe gaitMicroretrognathiaLow-set earsSensorineural hearing impairmentEsotropiaNystagmusDiplopiaPectus carinatumHyporeflexiaCongenital hip dislocationPolyhydramniosGastroesophageal refluxEEG with polyspike wave complexesObstructive sleep apneaRespiratory arrestMotor polyneuropathyStaring gazeJoint hypermobilityGait disturbance
Classification & Codes
MeSH Code
D020294Orphanet Code
ORPHA:590congenital myasthenic syndrome
| MeSH | D020294 |
| Orphanet | ORPHA:590 |
| Treatments | 0 drug(s) |
| Symptoms on record | 67 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO