MEDICAL DICTIONARY
Muscular dystrophy, Emery-Dreifuss: Abbreviated EDMD. A form of muscular dystrophy that begins in childhood or adolescence as a slowly progressive disorder of the upper arms or upper legs characterized by weakness and atrophy of muscles without involvement of the nervous system. Contractures of the limbs, especially the elbows, are common complications, as are serious heart problems.
EDMD is caused by mutation in the gene encoding emerin in chromosome band Xq28. Although only males have the muscle problems associated with EDMD, females may have the heart problems. Accordingly, female relatives of males with this disorder should have regular heart check-ups.
There are two other known types of EDMD. Both are caused by mutation in the lamin A gene (LMNA). One displays similar features to EDMD and is inherited in an autosomal dominant manner; it is classified as EDMD type 2. The other type appears to lack cardiac problems and is inherited in an autosomal recessive manner; it is EDMD type 3.
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