Limb girdle muscular dystrophies

The term limb girdle muscular dystrophy (LGMD) was fi rst used in 1954 by J. N. Walton and F. Nattrass. The authors sought to define another clinical unit in addition to the more common X-linked Duchenne muscular dystrophy and autosomal dominant hereditary myotonic and facioscapulohumeral muscular dystrophy (FSHD). In the following years, there was an increase in knowledge and publications describing individual LGMDs with not only autosomal recessive, but also dominant type of inheritance. It was obvious that LGMD would not be a single disease, but an umbrella term for a whole group of highly variable clinical units with a different genetic and pathophysiological background. The rapid development of molecular genetics, especially next generation sequencing techniques, has led to the discovery of many new associated genes. The new classification from 2018 defines more than 30 LGMD subtypes and is designed with the assumption that more will be added in the future. This publication provides a brief overview of available information on LGMDs and their epidemiology, pathogenesis, phenotypic features, including a description of the most common clinical units, dia gnosis, differential dia gnosis, and available and evolving treatment options.