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congenital myopathy with myasthenic-like onset

ORPHA: 424107

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

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 myopathy with myasthenic-like onset, sourced from HPO and Orphanet clinical annotations.

Fatigable weaknessPtosisMotor delayAreflexiaGait disturbanceFailure to thriveMalignant hyperthermiaMyopathic faciesRecurrent respiratory infectionsScoliosisMultiple joint contracturesMyopathyEasy fatigabilityEMG: myopathic abnormalitiesScapular wingingProximal muscle weaknessMinicore myopathyType 1 muscle fiber predominanceAxial hypotoniaFeeding difficultiesOphthalmoplegiaRespiratory insufficiency due to muscle weakness

Classification & Codes

Orphanet Code

ORPHA:424107
congenital myopathy with myasthenic-like onset
OrphanetORPHA:424107
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO