Synhaivskyi A. M., Delva M. Yu., Purdenko T. Y., Pushko O. O., Tarianyk K. A., Sylenko H. Ya., Hryn K. V.

LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A (CALPAINOPATHY): CLINICAL OBSERVATION

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Synhaivskyi A. M., Delva M. Yu., Purdenko T. Y., Pushko O. O., Tarianyk K. A., Sylenko H. Ya., Hryn K. V.

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CLINICAL AND EXPERIMENTAL MEDICINE

Type of article:

Scientific article

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The article illustrates a case study derived from our clinical observations, focusing on a patient diagnosed with limb-girdle muscular dystrophy, specifically type 2A, commonly known as calpainopathy. This 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. To date, more than 30 different genetic forms of limb-girdle muscular dystrophies have been identified. The article outlines the clinical manifestations and diagnostic criteria associated with this condition. The disease has an autosomal recessive type of inheritance, accounting for about 30% of all cases, and occurs as a result of a point mutation in the CAPN3 gene (15q15.1 - q21.1). The normal product of the CAPN3 gene is the proteolytic protein calpain-3, which probably ensures cytoskeletal stability. Calpain-3 is the only member of the calpain family that is present in skeletal muscle and is involved in the regulation of various tissue processes. There are 2 clinical forms of calpainopathies 2A: Leyden-Möbius type is characterized by initial weakness of the pelvic girdle muscles, which eventually spreads to the shoulder girdle, while in Erb type, weakness first manifests itself in the shoulder girdle muscles, and after a few years - in the pelvic girdle muscles. In order to diagnose calpainopathy, the doctor should be guided by the anamnesis, clinical presentation, results of laboratory, functional and medical genetic studies, and histological examination of the affected muscle. Currently, there is no specific treatment for calpainopathy. Treatment is symptomatic in nature, aimed at normalizing the patient’s general condition, restoring lost functions and possibly slowing down the rate of disease progression. Dynamic patient monitoring and symptom management improve the possibility of extending the duration and quality of life.

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Publication of the article:

«Bulletin of problems biology and medicine», 2024 Issue 2, 173, 246-253 pages, index UDC 616.746/748-008-071

DOI:

10.29254/2077-4214-2024-2-173-246-253