Emery-Dreifuss muscular dystrophy
- Basil T Darras, MD
Basil T Darras, MD
- Professor of Neurology
- Harvard Medical School
The muscular dystrophies are an inherited group of progressive myopathic disorders resulting from defects in a number of genes required for normal muscle function. Some of the genes responsible for these conditions have been identified. Muscle weakness is the primary symptom.
Emery-Dreifuss muscular dystrophy (EDMD), also known as humeroperoneal muscular dystrophy, can be inherited as an X-linked recessive, autosomal dominant, or autosomal recessive disorder.
The pathogenesis, genetics, and clinical characteristics of EDMD are discussed here. Other muscular dystrophies are presented separately. (See "Clinical features and diagnosis of Duchenne and Becker muscular dystrophy" and "Myotonic dystrophy: Etiology, clinical features, and diagnosis" and "Facioscapulohumeral muscular dystrophy" and "Limb-girdle muscular dystrophy" and "Oculopharyngeal, distal, and congenital muscular dystrophies".)
EDMD is a genetically heterogenous disorder with X-linked recessive, autosomal dominant, and autosomal recessive forms . Several forms are considered nuclear envelopathies because they are associated with mutations in genes encoding nuclear membrane proteins, including the EMD gene that encodes for emerin, the LMNA gene that encodes for lamin A and lamin C, and the SYNE1 and SYNE2 genes that encode for nesprin 1 and nesprin 2, respectively . The most common type is autosomal dominant EDMD caused by a heterozygous LMNA mutation, followed by X-linked EDMD caused by EMD or FHL1 mutations . There are only a few reports of autosomal recessive EDMD. In a high proportion of EDMD cases, the genetic defect remains unknown .
X-linked forms — The X-linked forms of the disorder are EDMD1 and EDMD6:
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