autosomal dominant Emery-Dreifuss muscular dystrophy
ORPHA: 98853
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 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
Orphanet Code
ORPHA:98853autosomal dominant Emery-Dreifuss muscular dystrophy
| Orphanet | ORPHA:98853 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO