Emery Dreifuss Muscular Dystrophy
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NORD is very grateful to Jan Lammerding, PhD, Assistant Professor, Cornell University, for assistance in the preparation of this report.
Synonyms of Emery Dreifuss Muscular Dystrophy
- autosomal dominant Emery-Dreifuss muscular dystrophy
- autsomal recessive Emery-Dreifuss muscular dystrophy
- X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart. The disorder consists of the clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and abnormalities affecting the heart (cardiomyopathy). Major symptoms may include muscle wasting and weakness particularly in arms and lower legs (humeroperoneal regions) and contractures of the elbows, Achilles tendons, and upper back muscles. In some cases, additional abnormalities may be present. In most cases, EDMD is inherited as an X-linked or autosomal dominant disease. In extremely rare cases, autosomal recessive inheritance has been reported. Although EDMD has different modes of inheritance, the symptoms are nearly the same.
EDMD belongs to a group of rare genetic muscle disorders known as the muscular dystrophies. These disorders are characterized by weakness and atrophy of various voluntary muscles of the body. Approximately 30 different disorders make up the muscular dystrophies. The disorders affect different muscles and have different ages of onset, severity and inheritance patterns.
Organizations related to Emery Dreifuss Muscular Dystrophy
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