Volume 29, Issue 159, May 2025

Current Treatment Approaches for Spinal Muscular Atrophy (SMA) – A Review

Patrycja Pysz^1♦, Kinga Świtała², Karolina Jałocha³, Marek Borecki⁴, Dominik Tomczak⁵, Maria Mroczka⁶, Agnieszka Czernecka⁷, Justyna Kuciel⁸, Kinga Erazmus⁹, Roksana Hrapkowicz¹⁰

¹V Military Hospital with Polyclinic, Wrocławska 1-3, 30-901 Kraków, Poland
²V Military Hospital with Polyclinic, Wrocławska 1-3, 30-901 Kraków, Poland
³Karol Marcinkowski University Hospital, Zyty 26, 65-046 Zielona Góra, Poland
⁴Karol Marcinkowski University Hospital, Zyty 26, 65-046 Zielona Góra, Poland
⁵Chrzanów District Hospital, Topolowa 16, 32-500 Chrzanów, Poland
⁶V Military Hospital with Polyclinic, Wrocławska 1-3, 30-901 Kraków, Poland
⁷Hospital of the Ministry of Internal Affairs and Administration, Kronikarza Galla 25, 30-053 Kraków, Poland
⁸Chrzanów District Hospital, Topolowa 16, 32-500 Chrzanów, Poland
⁹Ludwik Rydygier Specialist Hospital, Os. Złotej Jesieni 1, 31-820 Kraków, Poland
¹⁰Ludwik Rydygier Specialist Hospital, Os. Złotej Jesieni 1, 31-820 Kraków, Poland

^♦Corresponding author
Patrycja Pysz; V Military Hospital with Polyclinic, Wrocławska 1-3, 30-901 Kraków, Poland

ABSTRACT

SMA is an autosomal recessive neuromuscular disease characterized by progressive degeneration and loss of α-motor neurons in the spinal cord, leading to progressive muscle atrophy. The spectrum of the disease is broad, modified primarily by the number of copies of the SMN2 gene. SMA is caused by a survival motor neuron (SMN) protein deficiency. Before the introduction of disease-modifying therapies such as splicing modification and gene therapy, SMA was the second most common fatal disease after cystic fibrosis and the most common genetic cause of infant mortality. Recent advances in molecular biology provide increasing opportunities to interfere with earlier stages of the process, ultimately leading to SMN protein synthesis. Currently, the only approved disease-modifying therapies are onasemnogene abeparvovec, risdiplam, and nusinersen. A common feature of all three therapies is that intervention in the early presymptomatic period is fundamental to treatment response and can result in normal or near-normal motor development. The key milestones to this treatment have been understanding the genetic causes, regulation of SMN gene splicing, and the variability of disease phenotype and genotype. This review aims to present the aspects of spinal muscular atrophy and discuss the most advanced therapies currently approved for its treatment.

Keywords: spinal muscular atrophy (SMA), treatment, disease-modifying, gene therapy

Medical Science, 2025, 29, e75ms3572

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DOI: https://doi.org/10.54905/disssi.v29i158.e75ms3572

Published: 30 May 2025