Spinal Presentations in Children with Type 1 Spinal Muscular Atrophy on Nusinersen Treatment Across the SMA-REACH UK Network: a Retrospective National Observational Study

Overview

Journal BMJ Open

Date 2025 Jan 22

PMID 39842910

Authors

Lianne Abbott

Marion Main

Amy Wolfe

Annemarie Rohwer

Giovanni Baranello

Pinki Munot

Adnan Manzur

Francesco Muntoni

Mariacristina Scoto

Affiliations

Soon will be listed here.

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 nusinersen across the SMA-REACH UK network were reviewed through retrospective data analysis.

Results: There were 60 type 1 children who developed a spinal asymmetry, of which 40 had kyphosis and 50 used a supportive thoraco-lumbar-sacral orthosis (TLSO). TLSOs were predominantly a one-piece jacket with abdominal hole, advised to be worn when upright during the day. Reduced neck range of movement was found in 33, 1 of these had plagiocephaly and 5 had torticollis. Of those with reduced neck range of movement, 26 (79%) had spinal asymmetry. Spinal surgery was performed in 7.

Conclusions: Our study confirms high prevalence of spinal asymmetry in this cohort, requiring long-term management planning. It provides information on presentation and treatment options, facilitating development of guidelines for these new complications observed in children surviving longer with DMTs.

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