Which clinical history findings are characteristic of 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 following triad of symptoms strongly suggests EDMD:

  • Slowly progressive muscle weakness and wasting in a scapulohumeroperoneal distribution

  • Early contractures of the elbow, ankle, and posterior neck

  • Cardiac conduction defects, cardiomyopathy, or both

Onset is usually in the teenage years, but the condition can present with neonatal hypotonia or through the third decade. Patients typically develop weakness of peroneal muscles with toe-walking late in the first decade or in the early teenage years.

Prominent interfamilial and intrafamilial variability can exist, even with the same mutation types. However, sometimes a clear difference between mutation types cannot be found in families.


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