Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is the third most common X-linked muscular dystrophy, This disorder is characterized by childhood onset of ea rly contractures, humeroperoneal muscle atrophy, and cardiac conduction abn ormalities, Weakness is slowly progressive, but there is a broad spectrum o f clinical severity. Patients and carriers are at risk of sudden death. Reg ular cardiac evaluation is mandatory to assess the risk of cardiac arrhythm ias. Unique atrial pathology is seen at autopsy. The mutated gene in EDMD i s localized to the long arm of the X chromosome. Mutations in the gene lead to abolished synthesis of the gene product, emerin, Emerin is localized to the nuclear membrane of skeletal, cardiac, and smooth muscle. The term Eme ry-Dreifuss syndrome describes patients who have the EDMD phenotype without X-linked inheritance. There is no treatment for the underlying disease, bu t early placement of pacemakers may be lifesaving.