What is the mortality and morbidity associated with Emery-Dreifuss muscular dystrophy (EDMD)?

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

The major cause of mortality and morbidity in EDMD is cardiac disease, which is consistently present.

  • The most common disturbances are a result of atrial conduction defects (eg, bradycardia, atrial arrhythmias, atrioventricular [AV] block, atrial paralysis).

  • Cardiomyopathy may be present as well, and it may be severe with only a mild myopathy. This phenotype is more common with EMD2.

In some studies, as many as 40% of patients with EDMD had sudden cardiac death. The timely insertion of a pacemaker can be lifesaving. [4]

Early onset of contractures (often before weakness has developed) is common in EDMD.

  • This can lead to even greater functional disability than that caused by weakness.

  • Early referral for physical therapy, bracing, or orthopedic surgery can help prevent the formation or lessen the severity of contractures.


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