Emery Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, humeroperoneal weakness and cardiac conduction disease.

• Genetics: X linked (EMD, emerin), autosomal dominant or recessive (LMNA, lamin A/C), others (SYNE1/2, FHL1, TMEM43).

• Cardiac disease often more disabling than muscle disease and determines prognosis.

• Sudden death from complete heart block or ventricular arrhythmia.

• Elbow flexion contractures, Achilles tendon shortening, spinal rigidity (neck extension limited), onset in childhood.

• Slowly progressive humeroperoneal weakness.

• Cardiac: bradycardia, atrial paralysis, atrial fibrillation, AV block, dilated cardiomyopathy, usually in the 2nd to 3rd decade.

• Thromboembolism in atrial standstill.

• CK mildly to moderately raised.

• Genetic testing (EMD, LMNA, FHL1 panel); emerin or lamin immunostaining on muscle or skin biopsy.

• ECG, Holter, echocardiography, cardiac MRI from diagnosis, annually.

• Muscle MRI, pulmonary function.

• Cardiology management is vital: pacemaker for conduction disease; ICD (rather than pacemaker alone) for LMNA mutations with risk factors (non sustained VT, LVEF under 45%, male sex, AV block).

• Anticoagulation for atrial fibrillation/standstill (warfarin or apixaban 5 mg twice daily).

• Heart failure therapy (ACE inhibitor, beta blocker, MRA); transplantation for end stage.

• Physiotherapy, Achilles tendon release, spinal rigidity management, respiratory monitoring.

• Genetic counselling, carrier cardiac screening in female carriers of EMD.