What is the role of imaging studies 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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Answer

In a  study utilizing MRI imaging, researchers found that all patients with Emery-Dreifuss muscular dystrophy type 2 showed a characteristic involvement of the posterior calf muscles. They observed that while the medial head of the gastrocnemius was always predominantly involved, the lateral head was relatively spared. This pattern was more obvious in mildly affected patients in whom the other calf muscles were spared or only mildly involved. However, it was also recognizable in the patients with more advanced disease. In contrast, none of the patients with the X-linked EDMD or with Emery-Dreifuss-like phenotype but no mutation in either genes showed this pattern of muscle involvement. Findings suggest that patients with EDMD2 have a specific pattern of muscle involvement and therefore muscle MRI, in combination with other techniques, can be used to distinguish various genetic forms of the disease. [11]


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