presynaptic congenital myasthenic syndrome
ORPHA: 98914
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 presynaptic congenital myasthenic syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityGait disturbanceNeck muscle weaknessPtosisDysphagiaPoor suckSudden episodic apneaFatigable weaknessProximal muscle weaknessFrontalis muscle weaknessIntermittent episodes of respiratory insufficiency due to muscle weaknessFeeding difficultiesOphthalmoplegiaCyanosisIntellectual disabilityAtaxiaBulbar palsyDecreased fetal movementHypernasal speechRecurrent respiratory infectionsArthrogryposis multiplex congenitaApneic 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 gaze
Classification & Codes
Orphanet Code
ORPHA:98914presynaptic congenital myasthenic syndrome
| Orphanet | ORPHA:98914 |
| Treatments | 0 drug(s) |
| Symptoms on record | 67 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO