centronuclear myopathy X-linked
ORPHA: 596
Overview
centronuclear myopathy that has material basis in X-linked inheritance of mutations in MTM1 on Xq28
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 centronuclear myopathy X-linked, sourced from HPO and Orphanet clinical annotations.
Type 1 fibers relatively smaller than type 2 fibersLow APGAR scoreAbnormality of the eyeNeonatal hypotoniaDecreased fetal movementPolyhydramniosPremature birthPoor suckPneumoniaRespiratory distressRecurrent respiratory infectionsCentrally nucleated skeletal muscle fibersRespiratory failure requiring assisted ventilationSevere muscular hypotoniaFeeding difficulties in infancyFatigable weakness of bulbar musclesFatigable weakness of swallowing musclesWeakness of facial musculatureNecklace skeletal muscle fibersHigh palateDolichocephalyLong faceAbnormal facial shapeInability to walk
Classification & Codes
Orphanet Code
ORPHA:596centronuclear myopathy X-linked
| Orphanet | ORPHA:596 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO