The role of rehabilitation in the development of motor skills in patients with spinal muscular atrophy 5q receiving pathogenetic therapy

Introduction. Spinal muscular atrophy (SMA) 5q is a progressive neuromuscular disorder caused by a mutation in the SMN1 gene. Pathogenetic therapy has significantly altered the natural course of the disease but has not ensured complete restoration of previously lost motor functions. Given the persistence of muscle weakness, rehabilitation remains a crucial component of comprehensive patient management. Objective of the study. To assess the volume and structure of rehabilitation in patients with SMA types 1–3 receiving pathogenetic therapy and determine its association with the trend in motor development based on the number of motor skills.

Materials and methods. The study included one hundred forty three patients with SMA types 1–3 (59 — SMA 1; 52 — SMA 2; 32 — SMA 3) aged of 0–18 years. The median time from the disease onset to the initiation of pathogenetic therapy was 6.0 [3.0; 13.0] months in SMA type 1, 45.0 [14.0; 90.0] months in SMA type 2, and 100.0 [67.0; 147.5] months in SMA type 3. The observation period was 3 years from the initiation of pathogenetic therapy. Functional status was assessed using eight motor skills according to WHO criteria. The volume of rehabilitation was determined through interviews and medical documentation. Statistical analysis was performed using SPSS Statistics, version 26.0 (IBM, USA).

Results. During pathogenetic therapy, patients with SMA type 1 demonstrated positive developmental course by the end of the follow-up period: head control increased from 35.6% to 82.5%, rolling from 1.7% to 67.5%, independent sitting was achieved in 75% of children, and 15% developed the ability to bear weight on their legs. In patients with SMA type 2, pathogenetic therapy resulted in stabilization of basic functions and a moderate increase in more complex motor skills (crawling improved from 12.5% to 17.4%; supported standing from 8.3% to 21.7%; assisted walking from 2.1% to 13%; independent walking — 7.9%). In the SMA type 3 group, motor progress on therapy was characterized mainly by preservation of existing skills with some improvements (e.g., an increase in the frequency of crawling to 42.9% and a single case of new-onset independent walking in a baseline “sitter”). In baseline “walkers” with SMA type 3, stabilization was observed. A significant association was identified between the number of acquired motor skills and the volume of rehabilitation in patients with SMA type 1, as well as in baseline “sitters” with SMA types 2 and 3 (p ≤ 0.014). In SMA type 1, regular comprehensive rehabilitation resulted in significantly higher motor skill scores compared with all other approaches (p_padj < 0.001). In SMA type 2, regular forms of rehabilitation (comprehensive or home-based) demonstrated advantages over course-based rehabilitation (p_padj ≤ 0.024). In the SMA type 3 group, among “sitters,” course-based rehabilitation during the year led to a better motor response to therapy compared with children receiving no rehabilitation (p_padj = 0.028).

Conclusions. Regular rehabilitation interventions, especially when combined with center-based rehabilitation courses, were associated with better motor responses to pathogenetic therapy in both SMA type 1 patients and baseline “sitters” with SMA types 2 and 3. These findings confirm the important role of continuous rehabilitation as part of the standard of care for SMA, serving as a necessary condition for achieving optimal motor progress under modern pathogenetic therapeutic approaches.

Compliance with ethical standards. The study was approved by the local ethics committee of the Pirogov Russian National Research Medical University (protocol No. 226 dated February 20, 2023).

Contributions:
Papina Yu.O — literature review, data collection and analysis, manuscript preparation, formulation of conclusions;
Stevanovich A.R. — literature review, manuscript preparation;
Melnik E.A. — manuscript editing, formulation of conclusions;
Artemyeva S.B. — study coordination;
Vlodavets D.V. — study coordination, manuscript editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Funding. The study had no sponsorship.

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

Received: November 3, 2025
Accepted: December 1, 2025
Published: January 31, 2026

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