Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case
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 destructi...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2024-01-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/578 |
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| author | S. B. Artemyeva О. А. Shidlovskaya Yu. О. Papina А. V. Monakhova I. V. Shulyakov D. V. Vlodavets |
| author_facet | S. B. Artemyeva О. А. Shidlovskaya Yu. О. Papina А. V. Monakhova I. V. Shulyakov D. V. Vlodavets |
| author_sort | S. B. Artemyeva |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-cfc8f5555e4a4d9fb7d2f85d83d34d43 |
| institution | Matheson Library |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2024-01-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-cfc8f5555e4a4d9fb7d2f85d83d34d432025-08-04T14:08:25ZrusABV-pressНервно-мышечные болезни2222-87212413-04432024-01-0113410.17650/2222-8721-2023-13-4-103-112369Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical caseS. B. Artemyeva0О. А. Shidlovskaya1Yu. О. Papina2А. V. Monakhova3I. V. Shulyakov4D. V. Vlodavets5Research Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaResearch Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaResearch Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaResearch Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaResearch Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaResearch Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaDuchenne 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.https://nmb.abvpress.ru/jour/article/view/578duchenne muscular dystrophydmddystrophinexon-skippingantisense nucleotidesviltolarsen |
| spellingShingle | S. B. Artemyeva О. А. Shidlovskaya Yu. О. Papina А. V. Monakhova I. V. Shulyakov D. V. Vlodavets Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case Нервно-мышечные болезни duchenne muscular dystrophy dmd dystrophin exon-skipping antisense nucleotides viltolarsen |
| title | Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case |
| title_full | Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case |
| title_fullStr | Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case |
| title_full_unstemmed | Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case |
| title_short | Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case |
| title_sort | modern methods of therapy of duchenne muscular dystrophy literature review with a clinical case |
| topic | duchenne muscular dystrophy dmd dystrophin exon-skipping antisense nucleotides viltolarsen |
| url | https://nmb.abvpress.ru/jour/article/view/578 |
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