Abstract
The muscular dystrophies are heterogeneous group of conditions causing progressive muscle weakness. The dystrophinopathies are caused by mutations in the dystrophin gene, DMD, and include Duchenne muscular dystrophy, Becker muscular dystrophy, and isolated dilated cardiomyopathy. Limb-girdle muscular dystrophies (LGMD) result in progressive proximal muscle weakness and wasting of shoulder and pelvic girdle muscles. The LDMDs are caused by both autosomal dominant and recessive genes. Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant condition with scapular winging and slowly progressive muscle weakness. These and several other muscular dystrophies are discussed in this chapter.
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