Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns
Spinal muscular atrophy (SMA) is a hereditary, autosomal recessive disease that debuts at different ages. Neurological symptoms are progressive and lead to significant limitation of life activity and reduced life expectancy. Currently, there are several drugs for the pathogenetical treatment of SMA....
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2024-03-01
|
| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/593 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849240922160627712 |
|---|---|
| author | S. B. Artemyeva O. A. Shidlovskaya Yu. O. Papina A. V. Monakhova I. V. Shulyakova E. D. Belousova O. Yu. Germanenko D. V. Vlodavets |
| author_facet | S. B. Artemyeva O. A. Shidlovskaya Yu. O. Papina A. V. Monakhova I. V. Shulyakova E. D. Belousova O. Yu. Germanenko D. V. Vlodavets |
| author_sort | S. B. Artemyeva |
| collection | DOAJ |
| description | Spinal muscular atrophy (SMA) is a hereditary, autosomal recessive disease that debuts at different ages. Neurological symptoms are progressive and lead to significant limitation of life activity and reduced life expectancy. Currently, there are several drugs for the pathogenetical treatment of SMA. This article reflects the evolution of clinicians’ views on the treatment of patients with SMA as scientific evidence from clinical trials and experience in managing patients in real‑world clinical practice accumulates. The biggest debate is about the treatment of patients with 4 copies of the SMN2 gene. An analysis of the “SMA Families” patient registry database was carried out; data on two patients with 4 copies of the SMN2 gene with early onset of the disease were presented. |
| format | Article |
| id | doaj-art-f2f91c0cc52a4187a0a0049cebda1a23 |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2024-03-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-f2f91c0cc52a4187a0a0049cebda1a232025-08-20T04:00:20ZrusABV-pressНервно-мышечные болезни2222-87212413-04432024-03-01141869210.17650/2222-8721-2024-14-1-86-92378Approaches to pathogenetic therapy of spinal muscular atrophy in children and newbornsS. B. Artemyeva0O. A. Shidlovskaya1Yu. O. Papina2A. V. Monakhova3I. V. Shulyakova4E. D. Belousova5O. Yu. Germanenko6D. V. Vlodavets7Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaYu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaYu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaYu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaYu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaYu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaCharitable foundation for helping patients with spinal muscular atrophy and other neuromuscular diseases “SMA Families”Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaSpinal muscular atrophy (SMA) is a hereditary, autosomal recessive disease that debuts at different ages. Neurological symptoms are progressive and lead to significant limitation of life activity and reduced life expectancy. Currently, there are several drugs for the pathogenetical treatment of SMA. This article reflects the evolution of clinicians’ views on the treatment of patients with SMA as scientific evidence from clinical trials and experience in managing patients in real‑world clinical practice accumulates. The biggest debate is about the treatment of patients with 4 copies of the SMN2 gene. An analysis of the “SMA Families” patient registry database was carried out; data on two patients with 4 copies of the SMN2 gene with early onset of the disease were presented.https://nmb.abvpress.ru/jour/article/view/593spinal muscular atrophygene <i>smn1</i>gene <i>smn2</i>4 copiespathogenetical treatment |
| spellingShingle | S. B. Artemyeva O. A. Shidlovskaya Yu. O. Papina A. V. Monakhova I. V. Shulyakova E. D. Belousova O. Yu. Germanenko D. V. Vlodavets Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns Нервно-мышечные болезни spinal muscular atrophy gene <i>smn1</i> gene <i>smn2</i> 4 copies pathogenetical treatment |
| title | Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns |
| title_full | Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns |
| title_fullStr | Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns |
| title_full_unstemmed | Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns |
| title_short | Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns |
| title_sort | approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns |
| topic | spinal muscular atrophy gene <i>smn1</i> gene <i>smn2</i> 4 copies pathogenetical treatment |
| url | https://nmb.abvpress.ru/jour/article/view/593 |
| work_keys_str_mv | AT sbartemyeva approachestopathogenetictherapyofspinalmuscularatrophyinchildrenandnewborns AT oashidlovskaya approachestopathogenetictherapyofspinalmuscularatrophyinchildrenandnewborns AT yuopapina approachestopathogenetictherapyofspinalmuscularatrophyinchildrenandnewborns AT avmonakhova approachestopathogenetictherapyofspinalmuscularatrophyinchildrenandnewborns AT ivshulyakova approachestopathogenetictherapyofspinalmuscularatrophyinchildrenandnewborns AT edbelousova approachestopathogenetictherapyofspinalmuscularatrophyinchildrenandnewborns AT oyugermanenko approachestopathogenetictherapyofspinalmuscularatrophyinchildrenandnewborns AT dvvlodavets approachestopathogenetictherapyofspinalmuscularatrophyinchildrenandnewborns |