The limb-girdle muscular dystrophies

Abstract

A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-girdle dystrophies. In this large group of disorders, certain distinctive features often can guide clinicians to a correct diagnosis.

Keywords: Anoctamin 5; Calpain 3; Dysferlin; Fukutin-related protein; Lamin A/C; Limb-girdle muscular dystrophy; Sarcoglycan.