Limb-Girdle Muscular Dystrophy, Type 2a (Calpainopathy): Clinical Observation

Abstract

Connection of the publication with planned research works.The article is a part of the research project «Optimization of diagnostics, prognosis and prevention of neuropsychological disorders in organic diseases of the nervous system», state registration number 0120U104165.Introduction.Limb-girdle muscular dystrophy (LGMD) is a group of rare genetic diseases of non-inflammatory genesis, which are based on a primary deficiency of muscle fibers due to their atrophy. LGMD is clinically manifested by progressive muscle weakness, muscle atrophy, and motor disorders, with onset ranging from early childhood to adulthood, and varying course [1,2].In the middle of the 19th century, Duchenne de Boulogne and William Gowers described several patients of different genders and ages, whose clinical symptoms were later termed «Duchenne myodystrophy» [1]. The German physicians Ernst Viktor von Leyden (1876) and Paulus Julius Möbius (1879) were the first to identify isolated cases of adult patients with atrophy of the pelvic girdle and thigh muscles. In 1884, Wilhelm Heinrich Erb described a childhood form of proximal muscle weakness, and in 1891 he coined the term «progressive muscular dystrophy» [3].The term LGMD itself was proposed by J.N. Walton and F.J. Nattras in 1954 [4], but without clear guidelines for its definition. In 2017, a new system for the definition and classification of this pathology was presented at the