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...
  • Print
Answer

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.


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!