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X-linked myotubular myopathy

MeSH: C538647ORPHA: 596

Contents

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

Overview

medical condition

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 X-linked myotubular myopathy, 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

MeSH Code

C538647

Orphanet Code

ORPHA:596
X-linked myotubular myopathy
MeSHC538647
OrphanetORPHA:596
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO