Muscular Dystrophies

Abstract

Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and minimal respiratory compromise. The list and classification of muscular dystrophies are undergoing near-constant revision, based largely on new insights from genetics and molecular medicine. The authors present an overview of the muscular dystrophies, including their basic features, common clinical phenotypes, and important facets of management.

Keywords: Cardiomyopathy; Duchenne muscular dystrophy; Facioscapulohumeral muscular dystrophy; Limb girdle muscular dystrophy; Muscular dystrophy; Respiratory failure.