Morphological and laboratory genetic studies of muscular dystrophies

Muscular dystrophies are one of the most pressing problems of modern medicine. In the electronic library system e-Library on the topic “Muscular Dystrophies” 13,263 papers have been published, over the past 5 years — 4,221, and in PubMed, at the request of “Muscular Dystrophy”, more than 37 thousand publications have been found, over the past 5 years there are about 6,851. The interest in this problem is understandable, since the prevalence of progressive muscular dystrophies is 200 cases per 1 000,000 population, which permits to classify them as the most common forms of hereditary pathology. The article provides an overview of information on morphological and laboratory genetic. CONCLUSION: The literature review showed that despite predomination of molecular-genetic methods of examinations nowadays, morphological and immunohistological evaluation of the damaged muscles did not lose its actuality. This is because it is not always possible to perform genetic analysis in the patient due to technical complexity of the procedure, use of costly equipment, many genetic mutations. Therefore, in some forms of muscular dystrophies (for example, in dysferlinopathies) of primary importance is morphological and immunohistological analysis of biopsy material. Nevertheless, this method should not be considered as most precise due to similarity of the morphology of different kinds of muscular dystrophies. Thus, correct diagnosis always requires systemic approach including comprehensive examination of the patient with use of maximally available methods. This is necessary for genetic consultations of patient, determination of peculiarities of therapy and for inclusion of patients in clinical trials.