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Limb-girdle muscular dystrophy

Basil T Darras, MD
Section Editors
Douglas R Nordli, Jr, MD
Jeremy M Shefner, MD, PhD
Deputy Editor
John F Dashe, MD, PhD


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 will be reviewed here. Other dystrophies are presented separately. (See "Clinical features and diagnosis of Duchenne and Becker muscular dystrophy" and "Emery-Dreifuss muscular dystrophy" and "Facioscapulohumeral muscular dystrophy" and "Myotonic dystrophy: Etiology, clinical features, and diagnosis" and "Oculopharyngeal, distal, and congenital muscular dystrophies".)


Limb-girdle muscular dystrophy (LGMD) is defined as a muscular dystrophy with predominantly proximal distribution of weakness. It includes a number of heterogeneous genetic disorders that vary in severity, phenotype, pathology, and age of onset, which ranges from childhood through adulthood [1-3]. LGMD is still used as a generic term to describe those patients with muscular dystrophy of girdle distribution.


Most cases of LGMD are inherited in an autosomal recessive or an autosomal dominant pattern [4]. In some families, the inheritance pattern cannot be determined [5].

The discovery of genetically distinct subtypes has redefined the classification of LGMD and has led to nomenclature designating the autosomal dominant forms as LGMD1A, 1B, 1C, etc, and the autosomal recessive forms as LGMD2A, 2B, 2C, etc (table 1) [6]. (See 'Autosomal dominant subtypes' below and 'Autosomal recessive subtypes' below.)


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Literature review current through: Sep 2016. | This topic last updated: Jul 25, 2016.
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