Emery-Dreifuss Muscular Dystrophy Treatment & Management

Updated: May 23, 2019
  • Author: Eli S Neiman, DO, FACN; Chief Editor: Amy Kao, MD  more...
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Treatment

Medical Care

No specific treatment for EDMD exists, but aggressive supportive care is essential to preserve muscle activity, to provide for maximal functional ability, and to prolong life expectancy.

The primary concern is preventing sudden cardiac death.

  • Pacemakers should be inserted in patients with bradycardia. The European Society of Cardiology recommends pacing at the first appearance of bradyarrhythmias or conduction disturbances, in general before the age of 30 years. [12]

  • Intra-atrial thrombus, cerebral embolization, and cardiomyopathy may still occur even in patients treated with pacemaker.

  • Cardiac transplantation should be considered in patients with progressive untreatable cardiomyopathy.

  • Ventricular arrhythmias may occur late in the disease and for this reason a cardioverter-defibrillator may be preferable to a simple pacemaker.

The other main concern is prevention and correction of skeletal abnormalities (contractures) and to maintain ambulation.

  • Achilles tenotomy may help stabilize ankle contractures.

  • Neck and spine contractures may benefit from surgical intervention (internal fixation with rods), but the benefit must be weighed against the risk of loss of ambulation.

Aggressive use of passive stretching, bracing, and orthopedic procedures allows the patient to remain independent for as long as possible.

As in other hereditary myopathies, a team approach including a neurologist, pulmonologist, cardiologist, orthopedic surgeon, physiatrist, physical therapist, orthotist, and counselors ensures the best possible therapy.

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Surgical Care

The goal is to keep the patient as mobile as possible for as long as possible.

Orthopedic surgery (eg, tendon release) may be needed to correct or prevent contractures and to increase range of motion.

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Consultations

Consultations with the following may be helpful:

  • Cardiologist: Early referral and evaluation by a cardiologist is mandatory for persons with EDMD, immediately after diagnosis. Not only is cardiac disease always present, it may manifest unexpectedly as syncope or sudden death. Typically, ECG, 24 hour Holter-monitoring, and echocardiography should be performed yearly. Treatment with a pacemaker if the patient is symptomatic or if the ECG shows significant bradycardia or rhythm disturbances can be lifesaving. However, sudden cardiac death has been reported in patients with a pacemaker, and the insertion of a defibrillator has been recommended. As many as 20% of female carriers may have significant cardiac disease and should be monitored with annual ECGs.

  • Pulmonologist

  • Orthopedic surgeon

  • Physical medicine specialist and a physical therapist

  • Orthotist

  • Anesthesiologist experienced in the care of patients with MD

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