Introduction:
The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibres.
Case presentation:
X- linked Emery-Dreifuss Muscular Dystrophy: The Propositus, 54 years old man , was one of the monozygotic twins .Admitted to hospital because of the chest pain and was found to have atrial arrest , for which a pace maker was inserted . Elbow contractures had been noted and had been toe walking since early childhood. Mild weakness has been noticed around 10 years of age. He had had a cerebral accident with left hemi paresis at age of 31, slows heart rate and had been on anticoagulant since…show more content… This disease is transmitted usually as an X- linked recessive trait, rarely as an autosomal dominant trait and exceptionally as an autosomal recessive trait. The creatine kinase level is raised when there are necrotic or regenerating muscle fibres, and is thus not an indication of relative predominance of either of this related phenomenon. In 1961, Driefuss and Hogan’s described a large family from Virginia with a slowly progressive muscular dystrophy showing x- linked inheritance. Unlike Duchenne and Beckers, there was a presence of contractures and absence of pseudo hypertrophy which delineated the symptoms of EMD. Cardiac involvement is the most serious and important aspect of the disease. It usually becomes evident as muscle weakness progresses, but may exceptionally occur before there is any significant weakness. In almost all those affected by the disorder there is some evidence of cardiac involvement by age 30
