How is Emery-Dreifuss muscular dystrophy (EDMD) treated?

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

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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