Spinal muscular atrophy (SMA)
Spinal muscular atrophy (SMA) is a rare severe hereditary progressive neuromuscular disease. It develops due to a mutation or absence of the SMN1 gene in the DNA, which is why a deficiency of the SMN protein is formed, which is necessary to preserve motor neurons - large nerve cells in the spinal cord that control muscle movement. As a result, the muscles weaken and atrophy.
Content |
Depending on the type of SMA, a person's physical strength and ability to walk, eat or breathe can be significantly reduced or completely lost. According to various data for 2020, every 40-60th person is a carrier of a gene mutation; if both parents have a mutation, the probability of having a baby with SMA is 25%[1]
According to the SMA Families charitable foundation at the end of 2022, about 200 children with spinal muscular atrophy are born in Russia every year. More than 3,000 Russians live with this diagnosis.
At the beginning of November 2020, there were 1,048 patients with SMA in Russia, of which 823 were children. At the same time, the potential number of patients in the country can reach 4.9 thousand people [2] of [3]
Rehabilitation
Modern therapy can stop the progression of the disease, but by 2023 there is no way to restore motor neurons that have already died before it began. Therefore, rehabilitation is an integral element of the life of families with SMA. The combination of drug therapy and properly organized rehabilitation helps to maintain existing and develop new skills, which is of great importance for improving the quality of the whole future life of the child.
2023: ФизикаСМА.рф project launched in Russia to rehabilitate children with spinal muscular atrophy
A ФизикаСМА.рф project has been launched in Russia, which has collected materials on the rehabilitation of children with spinal muscular atrophy (SMA). With the help of visual articles and videos, families of patients will be able to learn about the main approaches to rehabilitation, understand the variety of technical means of rehabilitation, as well as get answers to many questions of concern to them. The SMA Family Foundation announced this on January 30, 2023. Read more here.
SMA products
2024: A domestic analogue of spinraza has appeared in Russia
On April 23, 2024, it became known that the Russian Ministry of Health registered a domestic analogue of the drug spinraza (international non-proprietary name - nusinersen), which is one of the most expensive drugs in the world. This agent is intended for the therapy of spinal muscular atrophy (SMA) - an inherited disease characterized by the development of progressive muscle weakness. Read more here.
2023: R-Pharm and Kazan Federal University will jointly develop an innovative drug for the treatment of spinal muscular atrophy
R-Pharm Group and Kazan Federal University announced the signing of an agreement on the development of an innovative gene therapy drug. According to the agreement, scientists from KFU will develop a drug for the treatment of spinal muscular atrophy, the customer of which is the R-Pharm group of companies, which announced this on May 11, 2023. Read more here.
2021: Registration of Zolgensma in Russia
In December 2021, the Ministry of Health of the Russian Federation registered the drug Zolgensma, which is used to treat spinal muscular atrophy (SMA) in children. This medicine worth about $2.1-2.5 million is considered the most expensive in the world. Read more here.
Notes
| The site content is translated by machine translation software powered by PROMT. The machine-translated articles are not always perfect and may contain errors in vocabulary, syntax or grammar. Read original article If you find inaccuracies or errors in the results of machine translation, please write to editor@tadviser.ru. We will make every effort to correct them as soon as possible. |