![]() Although a cure for most MDs is not yet available, an accurate diagnosis is key for natural history studies and to establish priorities for medical management, therapy and genetic counselling. Despite remarkable advances, this work is not yet complete, and although a large number of genes have been identified, a considerable number of patients still remain undiagnosed. Progress made in the past 25 years has enabled the discovery of new causative genetic defects with many novel proteins involved in MD (an updated list of MDs and responsible genes can be found at ). The subclassification is based on mode of inheritance, age of onset and distribution of muscles affected. ![]() The term muscular dystrophies (MDs) refers to a large group of genetically inherited disorders characterised by weakness and wasting of skeletal muscle. Indeed, there is a degree of direct or functional association between many of these proteins that is reflected by the presence of specific secondary abnormalities that are of value, especially when the diagnosis is not straightforward. ![]() It is good practice to test muscle biopsies with antibodies for several proteins simultaneously and to interpret the results in context. However, abnormalities in protein expression can vary from absence to very subtle reduction. Immunoanalysis has a major diagnostic application mostly in recessive conditions where the absence of labelling for a particular protein is likely to indicate a defect in that gene. Immunohistochemistry and western blot are complementary techniques used to gather quantitative and qualitative information on the expression of proteins involved in this group of diseases. Protein analysis interpreted in correlation with the clinical phenotype is a useful way of directing genetic testing in many types of muscular dystrophies. Because of the currently limited capacity to screen for numerous genes simultaneously, muscle biopsy is a time and cost-effective test for many of these disorders. Very few muscular dystrophies show sufficient specific clinical features to allow a definite diagnosis. Muscular dystrophies are a large heterogeneous group of inherited diseases that cause progressive muscle weakness and permanent muscle damage. ![]()
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