@article{Kyrylova_Miroshnykov_Yuzva_Silaeva_Tkachuk_Beregela_Filozop_2022, title={Autosomal recessive limb-girdle muscular dystrophy type 2A: a literature review and clinical cases}, volume={18}, url={https://inj.zaslavsky.com.ua/index.php/journal/article/view/938}, DOI={10.22141/2224-0713.18.2.2022.938}, abstractNote={<p>The article presents two clinical cases of two girls with autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) with different ages of onset of symptoms and no family history, which was manifested in the gradual appea-rance of proximal muscle weakness in all four limbs and thinning shoulders, upper limbs, and thighs. Both patients had elevated creatine phosphokinase levels and a c5050delA mutation in the CAPN3 gene. Type 2A is the most common form of limb-girdle dystrophy, accounting for about 30 % of all cases. LGMD2A is caused by mutations in the gene encoding the protein calpain 3 and is characterized by selective atrophy and weakness of the muscles of the proximal extremities and muscles of the upper and lower girdle. The age of onset of muscle weakness varies greatly: from 8 to 15 years, although it can range from 2 to 50 years. The diagnosis can be suspected by clinical examination or muscle biopsy. Blood tests for serum creatine kinase may also show elevated levels, which indicate muscle problems. The diagnosis should be confirmed by detecting a mutation in the calpain 3 gene, which is performed in a sample of deoxyribonucleic acid from a blood test. To date, there is no specific treatment for limb-girdle dystrophy, but the careful treatment of the symptoms can improve a person’s quality of life.</p>}, number={2}, journal={INTERNATIONAL NEUROLOGICAL JOURNAL}, author={Kyrylova, L.G. and Miroshnykov, O.O. and Yuzva, O.O. and Silaeva, L.Yu. and Tkachuk, L.I. and Beregela, O.V. and Filozop, M.V.}, year={2022}, month={Jul.}, pages={15–20} }