AI Article Synopsis

  • Spinal muscular atrophy type 1 is a severe illness in young children, often leading to complications like scoliosis and hip deformities, yet treatment with nusinersen improves survival and motor skills.
  • A study involving 29 patients treated with nusinersen showed that while the therapy significantly correlated with better motor function scores, it did not significantly impact the development of spinal and hip deformities.
  • The findings suggest that even with effective treatment, patients continue to experience progressive skeletal changes, highlighting the need for ongoing monitoring and potential additional interventions.

Article Abstract

Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients. Nusinersen, Food and Drug Administration-approved spinal muscular atrophy therapy, extends survival and enhances motor function. However, its influence on spinal and hip deformities remains unclear.

Methods: In a retrospective study, 29 spinal muscular atrophy type 1 patients born between 2017 and 2021, confirmed by genetic testing, treated with intrathecal nusinersen, and had registered to the national electronic health database were included. Demographics, age at the first nusinersen dose, total administrations, and Children's of Philadelphia Infant Test of Neuromuscular Disorders scores were collected. Radiological assessments included parasol rib deformity, scoliosis, pelvic obliquity, and hip subluxation.

Results: Mean age was 3.7 ± 1.1 (range, 2-6), and average number of intrathecal nusinersen administration was 8.9 ± 2.9 (range, 4-19). There was a significant correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and the number of nusinersen administration ( = 0.539,  = 0.05). The correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and patient age ( = 0.361) or the time of first nusinersen dose ( = 0.39) was not significant ( = 0.076 and  = 0.054, respectively). While 93.1% had scoliosis, 69% had pelvic obliquity, and 60.7% had hip subluxation, these conditions showed no significant association with patient age, total nusinersen administrations, age at the first dose, or Children's of Philadelphia Infant Test of Neuromuscular Disorders scores.

Conclusion: Disease-modifying therapy provides significant improvements in overall survival and motor function in spinal muscular atrophy type 1. However, progressive spine deformity and hip subluxation still remain significant problems in the majority of cases which would potentially need to be addressed.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144372PMC
http://dx.doi.org/10.1177/18632521241235028DOI Listing

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