Emery-Dreifuss muscular dystrophy
MeSH: D020389ORPHA: 261
Overview
muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle
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 Emery-Dreifuss muscular dystrophy, sourced from HPO and Orphanet clinical annotations.
Pectus excavatumReduced tendon reflexesJoint stiffnessMyotoniaMyopathyElevated circulating creatine kinase concentrationLimb-girdle muscular dystrophySprengel anomalyGait disturbanceAchilles tendon contractureHypertriglyceridemiaWaddling gaitElbow flexion contractureIncreased LDL cholesterol concentrationSpinal rigidityBack painEMG: myopathic abnormalitiesScapular wingingRimmed vacuolesDecreased cervical spine flexion due to contractures of posterior cervical musclesProximal upper limb amyotrophyProximal lower limb amyotrophyProximal lower limb muscle weaknessProximal upper limb muscle weaknessType 1 muscle fiber atrophyTip-toe gaitAbsent muscle fiber emerinPtosisHypotoniaObesityDilated cardiomyopathyAtrioventricular blockScoliosisKyphosisHyperlordosisSupraventricular arrhythmiaIchthyosisLipodystrophyVocal cord paralysisHypertrophic cardiomyopathySudden cardiac deathRespiratory insufficiency due to muscle weaknessVentricular escape rhythm
Classification & Codes
MeSH Code
D020389Orphanet Code
ORPHA:261Emery-Dreifuss muscular dystrophy
| MeSH | D020389 |
| Orphanet | ORPHA:261 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO