{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T16:05:14Z","timestamp":1781712314505,"version":"3.54.5"},"reference-count":35,"publisher":"BMJ","issue":"1","license":[{"start":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T00:00:00Z","timestamp":1737417600000},"content-version":"unspecified","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2024,11,4]]},"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>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.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>Spinal presentation and management of 80 children (age range 4 months\u201314 years, median 4 years 2 months) with type 1 SMA on nusinersen across the SMA-REACH UK network were reviewed through retrospective data analysis.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>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.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>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.<\/jats:p>\n<\/jats:sec>","DOI":"10.1136\/bmjopen-2023-082240","type":"journal-article","created":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T15:19:33Z","timestamp":1737559173000},"page":"e082240","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational 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