What is the prevalence 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

No good data exist concerning the frequency of EMD1 or EMD2, but more than 70 different mutations have been reported in the EMD gene and more than 100 in LMNA. Sporadic cases with a mutation in the EMD gene are uncommon but are becoming increasingly more recognized in LMNA. A European collaborative study found LMNA mutations in 18 families and 39 sporadic cases with an EMD2 phenotype. A Japanese study found that laminopathy was slightly more common than emerinopathy. [3] The combined prevalence of X-linked and autosomal EDMD has been estimated at about 1-2 cases per 100,000 people.

Only about 50% of patients with EDMD have a mutation in one of the known nuclear envelope genes, with about 20% each being caused by mutations in EMD and LMNA. This suggests that unknown genes also likely related to the nuclear envelope are involved in EDMD pathogenesis. [1]


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