The limb girdle muscular dystrophies: Our ever-expanding knowledge

The limb girdle muscular dystrophies (LGMDs) represent a genetically diverse group of disorders. Currently, chromosomal loci are known for at least 5 autosomal-dominant and 10 autosomal-recessive subgroups. in 13 of these, recognized genes and protein products generate an assortment of phenotypes, some unique and many over-lapping. In some disorders, novel clinical features are sufficiently distinct so as to proffer clues to the diagnosis of a specific LGMD subtype. An armamentarium of laboratory tools is required to confirm specific subtypes of LGMD. These might only be available in neuromuscular centers specializing in this form of dystrophy. Currently, supportive therapy is the predominant means of treatment, but further understanding of unique pathogenic mechanisms holds promise for the future.