What is the role of genetic testing in the workup 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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If emerin is absent or reduced on tissue sample or with a typical presentation and clear X-linked inheritance, EMD should be tested.

With a typical clinical presentation and autosomal dominant inheritance, LMNA should be tested.

Affected females should also undergo genetic testing.

A multi-gene panel that includes EMD, LMNA, and FHL1 (and others) could also be considered.

Whole exome sequencing should be used if the above fails to show abnormality.

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