Pathogenetic therapy in children with spinal muscular atrophy

Pathogenetic therapy in children with spinal muscular atrophy

E.A. Komarova, A.S. Kotov

M.F. Vladimirskiy Moscow Regional Research and Clinical Institute, Moscow

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder characterized by progressive flaccid paralysis and muscle atrophy resulting from the degeneration of α-motor neurons residing in the anterior horns of the spinal cord. This degeneration leads to early onset disability and is frequently associated with premature mortality. SMA most commonly presents in early childhood. When SMA is suspected, prompt referral for diagnostic evaluation is critical, as the subsequent health-related quality of life is highly dependent on the timing of diagnosis and the initiation of pathogenetic therapy prior to irreversible neuronal loss. Prior to the advent of pathogenetic therapies, management was limited to symptomatic treatment. Currently, several methods of disease-modifying therapy have been developed that can alter disease progression and improve health-related quality of life in affected individuals. At present, nusinersen, risdiplam, and onasemnogene abeparvovec are widely utilized globally for the treatment of SMA. These agents have demonstrated efficacy and safety in both pediatric and adult populations. Furthermore, novel therapeutic agents for SMA are under development, which is expected to increase the accessibility and effectiveness of treatment for this disorder.

Keywords: spinal muscular atrophy, SMA, pathogenetic treatment, SMN1 gene, SMN2 gene.

For citation: Komarova E.A., Kotov A.S. Pathogenetic therapy in children with spinal muscular atrophy. RMJ. 2025;4:26–30. DOI: 10.32364/2225-2282-2025-4-5