Background
The administration of Nusinersen has extended the life expectancy of children with spinal muscular atrophy (SMA) Type I, while the prevalence and progression of musculoskeletal deformities remain uncertain.
Objectives
To investigate the prevalence of scoliosis, joint contracture, and hip dislocation in children with SMA, and to assess whether Nusinersen combined with rehabilitation can stabilize or improve musculoskeletal conditions.
Methods
This multicenter study enrolled 229 children with SMA across nine hospitals in China, with 83 followed longitudinally for 1 to 2 years after Nusinersen initiation. Age, gender, SMA subtype, motor ability, and functional scores were collected. Radiological examinations confirmed scoliosis and hip dislocation, while joint contracture was evaluated through passive range of motion. Spearman’s correlation and logistic regression were used to identify associations and predictors.
Results
Overall, 59% of children had scoliosis, 62% had joint contracture, and 21% had hip dislocation. Among children with SMA Type I, 42% presented scoliosis, 46% joint contracture, and 25% hip dislocation. Age was identified as a significant predictor of musculoskeletal deformities, with the odds of scoliosis increasing by 1.379 per year, joint contracture by 1.303, and hip dislocation by 1.305 (P < 0.01). Musculoskeletal deformities correlated positively with age (P < 0.001) but negatively with SMA subtype (P < 0.01), motor ability (P < 0.05), and HFMSE scores (P < 0.01). During follow-up, scoliosis remained stable in 33% of children at 1 year and 42% at 2 years. Knee contracture stability was observed in 12% at 1 year, while ankle contracture remained stable in 25% at 1 and 2 years, with improvement in 25% at 2 years.
Conclusions
Musculoskeletal deformities are highly prevalent in children with SMA, particularly among Type I. Age and SMA subtype were significant predictors. Our findings suggest that an integrated approach combining Nusinersen treatment with rehabilitation management may help stabilize or improve musculoskeletal outcomes in this population.
Data registration reference
NCT04089566.
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