Experience of observing patients with Duchenne myopathy
Duchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease (less than 3 % of the norm) of the dystrophin protein. In recent years, several drugs for pathogenetic treatment of Duchenne myodystrophy hav...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2023-12-01
|
| Series: | Русский журнал детской неврологии |
| Subjects: | |
| Online Access: | https://rjdn.abvpress.ru/jour/article/view/444 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850040336244539392 |
|---|---|
| author | L. I. Minaycheva E. Yu. Petlina E. G. Ravzhaeva G. N. Seitova |
| author_facet | L. I. Minaycheva E. Yu. Petlina E. G. Ravzhaeva G. N. Seitova |
| author_sort | L. I. Minaycheva |
| collection | DOAJ |
| description | Duchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease (less than 3 % of the norm) of the dystrophin protein. In recent years, several drugs for pathogenetic treatment of Duchenne myodystrophy have appeared in Russia. Unfortunately, this therapy is not universal and can only be prescribed to patients with certain types and regions of mutations. Establishing an accurate diagnosis for patients will allow timely determination of observation tactics, effective implementation of preventive and rehabilitative measures, and obtaining pathogenetic treatment. Gene therapy is a perspective option. This article describes clinical cases of Duchenne myopathy in patients with different variants of mutations in the dystrophin gene against the background of pathogenetic therapy. |
| format | Article |
| id | doaj-art-5ceaa0ba431e4a7f83d400cd123f7a8d |
| institution | DOAJ |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| publishDate | 2023-12-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj-art-5ceaa0ba431e4a7f83d400cd123f7a8d2025-08-20T02:56:07ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782023-12-01182-3313710.17650/2073-8803-2023-18-2-3-3-31-37299Experience of observing patients with Duchenne myopathyL. I. Minaycheva0E. Yu. Petlina1E. G. Ravzhaeva2G. N. Seitova3Research Institute of Medical Genetics, Tomsk National Research Medical CenterResearch Institute of Medical Genetics, Tomsk National Research Medical CenterResearch Institute of Medical Genetics, Tomsk National Research Medical CenterResearch Institute of Medical Genetics, Tomsk National Research Medical CenterDuchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease (less than 3 % of the norm) of the dystrophin protein. In recent years, several drugs for pathogenetic treatment of Duchenne myodystrophy have appeared in Russia. Unfortunately, this therapy is not universal and can only be prescribed to patients with certain types and regions of mutations. Establishing an accurate diagnosis for patients will allow timely determination of observation tactics, effective implementation of preventive and rehabilitative measures, and obtaining pathogenetic treatment. Gene therapy is a perspective option. This article describes clinical cases of Duchenne myopathy in patients with different variants of mutations in the dystrophin gene against the background of pathogenetic therapy.https://rjdn.abvpress.ru/jour/article/view/444duchenne myopathydmd genedystrophinpathogenetic therapyexon skipping |
| spellingShingle | L. I. Minaycheva E. Yu. Petlina E. G. Ravzhaeva G. N. Seitova Experience of observing patients with Duchenne myopathy Русский журнал детской неврологии duchenne myopathy dmd gene dystrophin pathogenetic therapy exon skipping |
| title | Experience of observing patients with Duchenne myopathy |
| title_full | Experience of observing patients with Duchenne myopathy |
| title_fullStr | Experience of observing patients with Duchenne myopathy |
| title_full_unstemmed | Experience of observing patients with Duchenne myopathy |
| title_short | Experience of observing patients with Duchenne myopathy |
| title_sort | experience of observing patients with duchenne myopathy |
| topic | duchenne myopathy dmd gene dystrophin pathogenetic therapy exon skipping |
| url | https://rjdn.abvpress.ru/jour/article/view/444 |
| work_keys_str_mv | AT liminaycheva experienceofobservingpatientswithduchennemyopathy AT eyupetlina experienceofobservingpatientswithduchennemyopathy AT egravzhaeva experienceofobservingpatientswithduchennemyopathy AT gnseitova experienceofobservingpatientswithduchennemyopathy |