Emery-Dreiffus muscular dystrophy

Emery-Dreifuss muscular dystrophy is a rare 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.