Limb-girdle muscular dystrophy - UpToDate
INTRODUCTION 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. The pathogenesis, genetics, and clinical characteristics of limb-girdle muscular dystrophy (LGMD) will be reviewed here. Other dystrophies are presented separately. (See "Duchenne and Becker muscular dystrophy: Clinical features and diagnosis" and "Emery-Dreifuss muscular dystrophy" and "Facioscapulohumeral muscular dystrophy" and "Myotonic dystrophy: Etiology, clinical features, and diagnosis" and "Oculopharyngeal, distal, and congenital muscular dystrophies".) DEFINITION AND NOMENCLATURE Limb-girdle muscular dystrophy (LGMD) is characterized by a predominantly proximal distribution of weakness. It includes a number of heterogeneous genetic disorders that vary in severity, phenotype, pathology, and a
INTRODUCTION 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. The pathogenesis, genetics, and clinical characteristics of limb-girdle muscular dystrophy (LGMD) will be reviewed here. Other dystrophies are presented separately. (See "Duchenne and Becker muscular dystrophy: Clinical features and diagnosis" and "Emery-Dreifuss muscular dystrophy" and "Facioscapulohumeral m
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