Orthopedic manifestations in children with spinal muscular atrophy: association with disease type and functional status (a multicenter study)
DOI:
https://doi.org/10.15574/PS.2026.1(90).4352Keywords:
5q-spinal muscular atrophy, orthopedic manifestations, scoliosis, joint contractures, foot deformities, functional motor statusAbstract
5q-spinal muscular atrophy (5q-SMA) is a genetically determined neuromuscular disorder characterized by progressive muscle weakness and the development of secondary orthopedic complications. Despite the rapid expansion of disease-modifying therapies, the structure and prevalence of orthopedic manifestations across different clinical types of SMA remain insufficiently systematized.
Aim - to analyze the characteristics of orthopedic pathology in patients with 5q-SMA types I-III and to evaluate its distribution according to functional motor status.
Materials and methods. A retrospective multicenter observational study was conducted at two tertiary referral centers between 2015 and 2025. Patients with genetically confirmed 5q-SMA were included. The presence of scoliosis, chest wall deformities, joint contractures, foot deformities, and hip dislocation was assessed. Motor function was evaluated using age- and phenotype-appropriate scales. Statistical analysis was performed using appropriate parametric and non-parametric methods; statistical significance was set at p<0.05.
Results. Orthopedic pathology was identified in the majority of patients regardless of SMA type. The prevalence of scoliosis, lower limb contractures, and foot deformities differed significantly between clinical types. Scoliosis and contractures were most frequently observed in patients with SMA type II, while foot deformities were more common in types II and III. No statistically significant difference in the prevalence of hip dislocation across SMA types was found. Functional motor status was associated with differences in the structure and distribution of specific orthopedic manifestations.
Conclusions. The pattern of orthopedic involvement in 5q-SMA is associated with both the clinical phenotype and preserved motor function. These findings support the need for individualized orthopedic surveillance strategies in children with SMA, taking into account their functional motor status.
The study was conducted in accordance with the principles of the Declaration of Helsinki. Informed consent was obtained from the children's parents.
The authors declare no conflicts of interest.
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