The muscular dystrophies

In 1954 based on their own detailed clinical studies and an extensive review of the earlier literature, Walton and Nattrass1 proposed a new and valuable classification of the muscular dystrophies. Ten years later Walton reviewed advances in the subject in the BMJ . 2 3 Many developments have taken place since then during a period in which there have been important advances in the application of molecular biology to medicine. Using protein studies and gene studies it is possible in the majority of cases to establish the precise diagnosis of a particular type of dystrophy, and thus provide a prognosis as well as genetic counselling and a reliable prenatal diagnosis. These developments could hardly have been imagined 30 years ago. #### Summary points The muscular dystrophies are a heterogeneous group of inherited disorders characterised by progressive muscle wasting and weakness The genes and the protein products that are responsible for the dystrophies have been identified for most types of dystrophy Using muscle protein studies and molecular genetic studies in the majority of cases it is possible to establish a precise diagnosis, provide a prognosis, detect preclinical cases, identify carriers, and offer prenatal diagnostic testing The quality of life of individuals with dystrophy can be much improved by a positive attitude to management which includes respiratory care, physiotherapy, and the surgical correction of contractures A molecular genetic approach seems to offer the best prospect for developing effective treatment in the future This brief review is partly based on a survey of the most recent literature and partly based on nearly 40 years of personal clinical and research experience of these disorders. During the past 10 years the European Neuromuscular Centre, now based in the Netherlands, has encouraged and coordinated both clinical and laboratory studies of dystrophy, many of which have led directly or indirectly to the advances …