Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case
Duchenne muscular dystrophy is a severe genetic disease caused by mutations in the dystrophin gene (DMD), which lead to a significant decrease or complete absence of the protein of the same name in muscle fibers. The disease manifests itself in boys from the age of 2–5 years in the form of progressi...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2024-09-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/624 |
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| author | L. S. Kraeva E. V. Fadeeva |
| author_facet | L. S. Kraeva E. V. Fadeeva |
| author_sort | L. S. Kraeva |
| collection | DOAJ |
| description | Duchenne muscular dystrophy is a severe genetic disease caused by mutations in the dystrophin gene (DMD), which lead to a significant decrease or complete absence of the protein of the same name in muscle fibers. The disease manifests itself in boys from the age of 2–5 years in the form of progressive muscular weakness, cardiomyopathy and respiratory failure. As a result of progression, patients lose the ability to move by adolescence and die in the third decade from cardiopulmonary complications. However, timely pathogenetic therapy for Duchenne muscular dystrophy can prolong the life of patients and improve its quality. In this regard, early diagnosis of the disease and early initiation of pathogenetic therapy are very important.The article describes two clinical cases of the disease in siblings with onset at 2 years of age and different ages of diagnosis. Pathogenetic therapy in the first case made it possible to prolong the patient’s outpatient stay and improve the quality of life, and early diagnosis and initiation of pathogenetic therapy in the second case avoided disease progression and contributed to the development of new motor skills. The presented clinical case demonstrates the need for early diagnosis of the disease even before the onset of clinical manifestations. |
| format | Article |
| id | doaj-art-9a0d42f4cb8e4d72b1968614215d21b3 |
| institution | DOAJ |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2024-09-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-9a0d42f4cb8e4d72b1968614215d21b32025-08-20T03:00:40ZrusABV-pressНервно-мышечные болезни2222-87212413-04432024-09-0114310210710.17650/2222-8721-2024-14-3-102-107395Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical caseL. S. Kraeva0E. V. Fadeeva1Siberian State Medical University, Ministry of Health of RussiaChildren’s Hospital No. 1Duchenne muscular dystrophy is a severe genetic disease caused by mutations in the dystrophin gene (DMD), which lead to a significant decrease or complete absence of the protein of the same name in muscle fibers. The disease manifests itself in boys from the age of 2–5 years in the form of progressive muscular weakness, cardiomyopathy and respiratory failure. As a result of progression, patients lose the ability to move by adolescence and die in the third decade from cardiopulmonary complications. However, timely pathogenetic therapy for Duchenne muscular dystrophy can prolong the life of patients and improve its quality. In this regard, early diagnosis of the disease and early initiation of pathogenetic therapy are very important.The article describes two clinical cases of the disease in siblings with onset at 2 years of age and different ages of diagnosis. Pathogenetic therapy in the first case made it possible to prolong the patient’s outpatient stay and improve the quality of life, and early diagnosis and initiation of pathogenetic therapy in the second case avoided disease progression and contributed to the development of new motor skills. The presented clinical case demonstrates the need for early diagnosis of the disease even before the onset of clinical manifestations.https://nmb.abvpress.ru/jour/article/view/624duchenne muscular dystrophydmd genedystrophinpathogenetic therapytranslarnaataluren |
| spellingShingle | L. S. Kraeva E. V. Fadeeva Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case Нервно-мышечные болезни duchenne muscular dystrophy dmd gene dystrophin pathogenetic therapy translarna ataluren |
| title | Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case |
| title_full | Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case |
| title_fullStr | Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case |
| title_full_unstemmed | Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case |
| title_short | Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case |
| title_sort | positive experience in treating patients with duchenne muscular dystrophy caused by a nonsense mutation family clinical case |
| topic | duchenne muscular dystrophy dmd gene dystrophin pathogenetic therapy translarna ataluren |
| url | https://nmb.abvpress.ru/jour/article/view/624 |
| work_keys_str_mv | AT lskraeva positiveexperienceintreatingpatientswithduchennemusculardystrophycausedbyanonsensemutationfamilyclinicalcase AT evfadeeva positiveexperienceintreatingpatientswithduchennemusculardystrophycausedbyanonsensemutationfamilyclinicalcase |