The review of approaches to screening for spinal muscular atrophy in various countries

The purpose of this article is to provide an up-to-date status and outcomes of neonatal screening programs for spinal muscular atrophy (SMA) undertaken in the Russian Federation and other countries, as well as to conduct comparative analysis of these approaches. SMA is one of the most common hereditary neuromuscular disorders that leads to the death in early age. Globally, there is an increasing trend toward incorporating SMA diagnostics into national neonatal screening programs. The key key stages of the SMA diagnostics include the initial identification of high-risk patients using quantitative PCR, followed by confirmatory diagnostics, commonly performed by MLPA. Analyses of global pilot newborn screening projects worldwide have shown the highest incidence of SMA to be 18.71 cases per 100 000 newborns in Japan (Hyōgo Prefecture). In Europe, the greatest incidence was documented in Italy, Germany, and Spain (Valencia). According to the results of expanded neonatal screening conducted in the Russian Federation the SMA prevalence was 9.5 per 100 000 screened newborns. The availability of effective disease-modifying therapies underscores the importance of identifying SMA at the presymptomatic stage to achieve better outcomes in terms of clinically meaningful long-term endpoints. Nowadays there are three disease-modifying drugs that are approved in the Russian Federation: nusinersen, risdiplam, and onasemnogene abeparvovec, which confirms the importance of inclusion neonatal screening for SMA in national neonatal screening program in the Russian Federation.

Contribution:
Voronin S.V. — concept and design, editing;
Mukhortova P.A. — writing the text, editing;
Slabikova A.A. — concept and design, writing the text, editing;
Omelyanovskiy V.V. — editing.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Funding. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: July 27, 2025
Accepted: August 28, 2025
Published: October 31, 2025

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