Affiliation:
1. Moscow Regional Research and Clinical Institute
Abstract
Progressive muscular dystrophies are a clinically and genetically heterogeneous group of hereditary diseases characterized by a non-inflammatory primary lesion of skeletal muscles. Although hereditary myopathies can debutе at any age and can affect various muscle groups, most muscular dystrophies share common clinical features. In addition to molecular genetic methods, there are many other diagnostic methods that help to make a correct diagnosis (study of creatine kinase in blood serum, CT and MRI of the affected muscles; histological examination, immunoblotting and immunocytochemical study of a biopsy of the affected muscle, etc.). Currently, for many of these diseases therapeutic studies are underway and there are medicines for Duchenne muscular dystrophy registered in Russia (ataluren) and abroad (eteplirsen, golodirsen, viltolarsen). The lecture presents basic data of the clinical picture, diagnosis and treatment of the most common forms of progressive muscular dystrophies.
Publisher
Medical Informational Agency Publishers
Subject
Psychiatry and Mental health,Clinical Neurology,Neurology
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