Emery-Dreifuss Muscular Dystrophy Follow-up

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

Further Outpatient Care

Patients with EDMD should be seen at least yearly by a neurologist and cardiologist, especially if placement of a permanent cardiac pacemaker is being considered.

At each visit, monitor muscle function, contractures, ability to perform activities of daily living (ADLs), and cardiac function.

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Further Inpatient Care

Further inpatient care may be needed for orthopedic or cardiac evaluation and treatment.

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Complications

Atrial cardiac conduction defects that manifest as syncope or sudden death are the main complications of EDMD.

Severe contractures can cause significant orthopedic problems.

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Prognosis

Early cardiac pacing will prevent sudden cardiac death, which is a frequent cause of early mortality.

EDMD is progressive, and patients often die in mid adulthood from progressive pulmonary or cardiac failure.

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Patient Education

Genetic counseling concerning the risk of cardiac disease in asymptomatic female carriers of the X-linked EDMD gene or the autosomal LMNA gene mutation can prevent sudden cardiac death in family members.

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