Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case
| Autor: | S. B. Artemyeva, О. А. Shidlovskaya, Yu. О. Papina, А. V. Monakhova, I. V. Shulyakov, D. V. Vlodavets |
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| Jazyk: | ruština |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Нервно-мышечные болезни, Vol 13, Iss 4 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2222-8721 2413-0443 |
| DOI: | 10.17650/2222-8721-2023-13-4-103-112 |
| Popis: | Duchenne muscular dystrophy is a genetic, X-linked, relentlessly progressive disease. Due to a genetic defect, the reading frame is disrupted during the synthesis of the dystrophin protein, resulting in its loss of functionality. As a result of the absence of dystrophin, there is a gradual destruction of muscle cells. In recent years, pathogenetic therapy for Duchenne muscular dystrophy has become available in Russia. However, the therapy available in Russia is specific, depending on the mutation variant, and may be recommended for approximately one third of patients. This article discusses the features of exon-skipping therapy, the clinical effectiveness, and safety of this group of drugs. The effectiveness and safety of the therapy are demonstrated through a clinical case of a patient receiving one of the drugs in this group. |
| Databáze: | Directory of Open Access Journals |
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