Spinal muscular atrophy type 1: current status of the issue
- Authors: Bondar V.A.1,2, Borisov I.V.3, Kanarskii M.M.3, Nekrasova J.Y.3,4
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Affiliations:
- The Russian National Research Medical University named after N.I. Pirogov (RNRMU)
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology (D. Rogachev NMRCPHOI)
- Federal Scientific Clinical Center for Resuscitation and Rehabilitation (FNKC RR)
- Moscow Aviation Institute (National Research University)
- Issue: Vol 23, No 2 (2020)
- Pages: 4-7
- Section: Expertise and rehabilitation
- URL: https://rjmseer.com/1560-9537/article/view/34221
- DOI: https://doi.org/10.17816/MSER34221
- ID: 34221
Cite item
Abstract
The development of medical technologies has led to an increase in the survival of patients with spinal muscular atrophy (SMA). In turn, these drugs have a high cost, which limits their availability for children with SMA. This fact posed new challenges for the science community. Currently, clinical trials of the effectiveness of drugs for the treatment of various types of spinal muscular atrophy are underway. Clinical forms of SMA are grouped into 5 subtypes depending on the severity of the disease and the age of onset of the disease. Type 1 spinal muscular atrophy, or Werdnig-Hoffmann disease, is the most common, accounting for 60% of all cases of the disease. The first positive results of clinical trials of two potentially new and effective drugs − Zolgensma and Risdiplam were published recently. Despite this, the inaccessibility of treatment of spinal muscular atrophy creates a serious interdisciplinary problem at the state level, including medical and social rehabilitation, which is important to understand when planning medical care.
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About the authors
Valeriya A. Bondar
The Russian National Research Medical University named after N.I. Pirogov (RNRMU); Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology (D. Rogachev NMRCPHOI)
Author for correspondence.
Email: bondva23@gmail.ru
ORCID iD: 0000-0002-3244-463X
Russian Federation, Moscow; 1, Samory Mashela street, Moscow 117997
Ilya V. Borisov
Federal Scientific Clinical Center for Resuscitation and Rehabilitation (FNKC RR)
Email: realzel@gmail.com
ORCID iD: 0000-0002-5707-118X
Russian Federation, Moscow
Mikhail M. Kanarskii
Federal Scientific Clinical Center for Resuscitation and Rehabilitation (FNKC RR)
Email: kanarmm@yandex.ru
ORCID iD: 0000-0002-7635-1048
Russian Federation, Moscow
Julia Y. Nekrasova
Federal Scientific Clinical Center for Resuscitation and Rehabilitation (FNKC RR); Moscow Aviation Institute (National Research University)
Email: nekrasova84@yandex.ru
ORCID iD: 0000-0002-4435-8501
PhD
Russian Federation, Moscow; Moscow