The childhood limb-girdle muscular dystrophies

Abstract

The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles. Over the last 12 years, the underlying genetic defects for many of the diseases have been identified and insight into pathomechanisms of disease has been gained. At the same time, improved diagnostic techniques have allowed to extend the phenotypic spectrum for many of these devastating conditions, which showed that clinical symptoms and pathological findings are not restricted to skeletal muscles. Childhood limb-girdle muscular dystrophies are systemic diseases that often affect the musculoskeletal, respiratory, and cardiovascular system and that can go along with central nervous system involvement and gastrointestinal symptoms. The systemic nature of the diseases requires adequate management strategies that improve symptoms, longevity, and quality of life of the patients. As we are entering an era of translational research the need for precise molecular diagnoses, a thorough understanding of the natural history of the diseases and guidelines for standardized assessments of the patients become even more relevant. In this review, the best characterized childhood limb-girdle muscular dystrophies are discussed and their management aspects highlighted.