Emery-Dreiffus muscular dystrophy

Last revised by Dr David Luong on 27 Jul 2021

Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. 

Clinical course

Weakness is slowly progressive, but there is a broad spectrum of clinical severity. 

Pathology

X-linked (EDMD1) and autosomal dominant (EDMD2) forms of the disease are noted which appears clinically similar and are caused by defects of the nuclear membrane proteins named emerin and lamins A/C, respectively.

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