Which specialist consultations are beneficial to patients 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

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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