{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["15(1)"],"submitter":["Abbott L"],"pubmed_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"],"journal":["BMJ open"],"pagination":["e082240"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11784377"],"repository":["biostudies-literature"],"pubmed_title":["Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study."],"pmcid":["PMC11784377"],"pubmed_authors":["Scoto M","White K","Emery N","D'Urso S","Milev E","Pallant L","Mason F","Sheehan J","McMurchie H","Longatto J","Rohwer A","Munot P","Raab R","NicFhirleinn G","SMA-REACH UK Network Physiotherapists","Gregson S","Selby V","Wolfe A","Topping A","Manzur A","Panagiotopoulou E","Abbott L","Main M","Muntoni F","Baranello G","Wadsworth S","Moustoukas J","Vann F","Rye C"],"additional_accession":[]},"is_claimable":false,"name":"Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study.","description":"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","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jan","modification":"2026-06-06T23:42:05.76Z","creation":"2026-06-06T03:11:10.047Z"},"accession":"S-EPMC11784377","cross_references":{"pubmed":["39842910"],"doi":["10.1136/bmjopen-2023-082240"]}}