How is autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) differentiated from the X-linked form?

Updated: May 23, 2019
  • Author: Eli S Neiman, DO, FACN; Chief Editor: Amy Kao, MD  more...
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In general, autosomal dominant EDMD is clinically indistinguishable from the X-linked form. A few differences have been noted to be more common in EDMD2 and include the following:

  • Muscle weakness is often the initial symptom, before contractures develop.

  • Calf hypertrophy may mimic other forms of childhood muscular dystrophy.

  • Scapular winging is more common.

  • Loss of ambulation is more likely.

  • Isolated or more severe cardiac conduction defects or cardiomyopathy are more common.

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