The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results
Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder typically manifesting in boys aged 2–5 years, characterized by a progressive course. According to natural disease progression data, individuals with DMD typically lose the ability to walk independently by the age of 13...
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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/573 |
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| author | T. N. Kekeeva N. L. Pechatnikova I. P. Vitkovskaya V. S. Kakaulina N. A. Krasnoschekova Yu. E. Martynenko |
| author_facet | T. N. Kekeeva N. L. Pechatnikova I. P. Vitkovskaya V. S. Kakaulina N. A. Krasnoschekova Yu. E. Martynenko |
| author_sort | T. N. Kekeeva |
| collection | DOAJ |
| description | Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder typically manifesting in boys aged 2–5 years, characterized by a progressive course. According to natural disease progression data, individuals with DMD typically lose the ability to walk independently by the age of 13. In most cases, the disease leads to cardiorespiratory complications, resulting in a lethal outcome between the ages of 20–30.In recent years, there have been therapeutic agents developed for the pathogenic treatment of this condition. One such medication is ataluren (Translarna®), used in patients with DMD caused by the formation of a “stop codon” (nonsense mutation) in the DMD gene, responsible for the development of the disease.This article presents the experience of applying ataluren (Translarna®) in boys residing in Moscow who suffer from Duchenne muscular dystrophy. |
| format | Article |
| id | doaj-art-d9fc8c8dedb14f85be0350c21d3f794d |
| 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-d9fc8c8dedb14f85be0350c21d3f794d2025-08-04T14:08:25ZrusABV-pressНервно-мышечные болезни2222-87212413-04432024-01-0113410.17650/2222-8721-2023-13-4-56-61364The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first resultsT. N. Kekeeva0N. L. Pechatnikova1I. P. Vitkovskaya2V. S. Kakaulina3N. A. Krasnoschekova4Yu. E. Martynenko5Morozov Children’s City Clinical Hospital, Moscow Healthcare DepartmentMorozov Children’s City Clinical Hospital, Moscow Healthcare DepartmentMorozov Children’s City Clinical Hospital, Moscow Healthcare Department; Central Research Institute of Healthcare Organization and Informatization, Ministry of Health Russia; Pirogov Russian National Research Medical University, Ministry of Health of RussiaMorozov Children’s City Clinical Hospital, Moscow Healthcare DepartmentMorozov Children’s City Clinical Hospital, Moscow Healthcare DepartmentMorozov Children’s City Clinical Hospital, Moscow Healthcare DepartmentDuchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder typically manifesting in boys aged 2–5 years, characterized by a progressive course. According to natural disease progression data, individuals with DMD typically lose the ability to walk independently by the age of 13. In most cases, the disease leads to cardiorespiratory complications, resulting in a lethal outcome between the ages of 20–30.In recent years, there have been therapeutic agents developed for the pathogenic treatment of this condition. One such medication is ataluren (Translarna®), used in patients with DMD caused by the formation of a “stop codon” (nonsense mutation) in the DMD gene, responsible for the development of the disease.This article presents the experience of applying ataluren (Translarna®) in boys residing in Moscow who suffer from Duchenne muscular dystrophy.https://nmb.abvpress.ru/jour/article/view/573duchenne muscular dystrophypathogenic therapyatalurentranslarna |
| spellingShingle | T. N. Kekeeva N. L. Pechatnikova I. P. Vitkovskaya V. S. Kakaulina N. A. Krasnoschekova Yu. E. Martynenko The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results Нервно-мышечные болезни duchenne muscular dystrophy pathogenic therapy ataluren translarna |
| title | The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results |
| title_full | The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results |
| title_fullStr | The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results |
| title_full_unstemmed | The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results |
| title_short | The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results |
| title_sort | experience of using ataluren in duchenne muscular dystrophy in moscow first results |
| topic | duchenne muscular dystrophy pathogenic therapy ataluren translarna |
| url | https://nmb.abvpress.ru/jour/article/view/573 |
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