autosomal dominant centronuclear myopathy
ORPHA: 169189
Overview
centronuclear myopathy that has material basis in autosomal dominant inheritance
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 autosomal dominant centronuclear myopathy, sourced from HPO and Orphanet clinical annotations.
Cavernous hemangiomaPyloric stenosisAreflexia of lower limbsRespiratory insufficiency due to muscle weaknessPeripheral axonal neuropathyExercise-induced myalgiaCalf muscle hypertrophyNeonatal asphyxiaMalignant hyperthermiaCentrally nucleated skeletal muscle fibersPtosisThin ribsGait disturbanceGeneralized hypotoniaAbnormality of the foot musculatureLarge for gestational ageDecreased fetal movementPolyhydramniosDelayed gross motor developmentEMG: myopathic abnormalitiesType 1 muscle fiber predominanceMacrocephaly at birthMildly elevated creatine kinaseProximal lower limb muscle weaknessProximal upper limb muscle weaknessMuscle fibrillationUrinary incontinenceCryptorchidismExternal ophthalmoplegia
Classification & Codes
Orphanet Code
ORPHA:169189autosomal dominant centronuclear myopathy
| Orphanet | ORPHA:169189 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO