Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study.

ABSTRACT:

Background

Prior to the introduction of disease-modifying treatments (DMTs), children with type 1 spinal muscular atrophy (SMA) typically did not survive beyond the age of 2 years; management was mainly palliative. Novel therapies have made this a treatable condition, resulting in increased life expectancy and more time spent upright. Survival and improved function mean spinal asymmetry is a new complication with limited data on its prevalence and severity and no current guidelines on management and treatment. This study aimed to evaluate the spinal presentation and management of type 1 SMA children on nusinersen across the SMA-REACH UK network.

Methods

Spinal presentation and management of 80 children (age range 4 months-14 years, median 4 years 2 months) with type 1 SMA on

SUBMITTER: Abbott L 

PROVIDER: S-EPMC11784377 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature