Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects
https://doi.org/10.17650/2222-8721-2022-12-2-28-36
Abstract
This study presents the structure and population data of spinal muscular atrophy 5q in the Republic of North Ossetia – Alania. The number of newborns for the period 2000–2020 was 195 954, and the prevalence of spinal muscular atrophy 5q among newborns was 1:24 494, or 4.08 per 100.000. That corresponds to data on other populations of the Russian Federation and the world. We also describe intermediate results of the clinical efficacy of treatment of three spinal muscular atrophy 5q patients. Gene replacement therapy was used in two cases and combined pathogenetic and gene replacement therapy was used in the third case. No clinically significant decrease in the CHOP INTEND score from the baseline level was found in any patient during follow‑up. Clinical improvement was noted both during treatment with nusinersen and after administration of onasemnogene abeparvovec. Described clinical cases demonstrate the importance of early diagnosis and initiation of antisense oligonucleotide and/or gene replacement therapy, which is possible only when spinal muscular atrophy 5q is included in the neonatal screening program.
About the Authors
I. S. Tebieva
North-Ossetian State Medical Academy, Ministry of Health of Russia;
Medical-Genetic Consultation of Republican Children’s Clinical Hospital, Ministry of Health of Republic of North Ossetia – Alania
Russian Federation
Russian Federation
Inna Soslanbekovna Tebieva
40 Pushkinskaya St., Vladikavkaz 362007, Republic of North Ossetia – Alania;
33 Barbashova St., Vladikavkaz 362003
A. F. Murtazina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
S. B. Artemieva
Yu.E. Veltishchev Research Clinical Institute of Pediatrics of the N.I. Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
2 Taldomskaya St., Moscow 125412
Yu. V. Gabisova
Medical-Genetic Consultation of Republican Children’s Clinical Hospital, Ministry of Health of Republic of North Ossetia – Alania;
Russian Federation
Russian Federation
40 Pushkinskaya St., Vladikavkaz 362007, Republic of North Ossetia – Alania
R. A. Zinchenko
Research Centre for Medical Genetics;
National Research Institute of Public Health
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522;
build. 1, 12, Vorontsovo Pole St., Moscow, 105064
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Review
For citations:
Tebieva I.S., Murtazina A.F., Artemieva S.B., Gabisova Yu.V., Zinchenko R.A. Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects. Neuromuscular Diseases. 2022;12(2):28-36. (In Russ.) https://doi.org/10.17650/2222-8721-2022-12-2-28-36
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