autosomal recessive centronuclear myopathy

ORPHA: 169186

Contents

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

Overview

inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy

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 recessive centronuclear myopathy, sourced from HPO and Orphanet clinical annotations.

High palateRetrognathiaMotor delayGeneralized hypotoniaRespiratory insufficiencyWaddling gaitProgressive muscle weaknessGowers signDifficulty climbing stairsGeneralized amyotrophyDifficulty runningFacial palsyNarrow mouthBifid uvulaLong faceProtruding earOphthalmoparesisOphthalmoplegiaDelayed speech and language developmentMild intellectual disabilityDysarthriaAreflexiaFacial diplegiaDysphoniaAbnormal heart valve morphologyLeft ventricular hypertrophyPes cavusTalipes equinovarusAbnormal facial shapeHip contractureHyperlordosisEMG: decremental response of compound muscle action potential to repetitive nerve stimulationCentrally nucleated skeletal muscle fibersScapular wingingType 1 muscle fiber predominanceLong fingers

Classification & Codes

Orphanet Code

ORPHA:169186

autosomal recessive centronuclear myopathy

Orphanet	`ORPHA:169186`
Treatments	0 drug(s)
Symptoms on record	36 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO