{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:22:49Z","timestamp":1791469369149,"version":"4.3.4"},"reference-count":48,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T00:00:00Z","timestamp":1704412800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec id=\"S0317167124000015_as1\"><jats:title>Objectives:<\/jats:title><jats:p>Spinal muscular atrophy (SMA) is a leading genetic cause of infant death and represents a significant burden of care. An improved understanding of the epidemiology of SMA in Canada may help inform strategies to improve the standard of care for individuals living with SMA.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167124000015_as2\"><jats:title>Methods:<\/jats:title><jats:p>We employed a multisource approach to estimate the minimal incidence and prevalence of 5q SMA and to gain greater insight into recent clinical practices and treatment trends for the Canadian SMA population. Data sources included the Canadian Paediatric Surveillance Program (CPSP), Canadian Neuromuscular Disease Registry (CNDR), and molecular genetics laboratories in Canada.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167124000015_as3\"><jats:title>Results:<\/jats:title><jats:p>The estimated annual minimum incidence of 5q SMA was 4.38, 3.44, and 7.99 cases per 100,000 live births in 2020 and 2021, based on CPSP, CNDR, and molecular genetics laboratories data, respectively, representing approximately 1 in 21,472 births (range 12,516\u201329,070) in Canada. SMA prevalence was estimated to be 0.85 per 100,000 persons aged 0\u201379 years. Delay in diagnosis exists across all SMA subtypes. Most common presenting symptoms were delayed milestones, hypotonia, and muscle weakness. Nusinersen was the most common disease-modifying treatment received. Most patients utilized multidisciplinary clinics for management of SMA.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167124000015_as4\"><jats:title>Conclusion:<\/jats:title><jats:p>This study provides data on the annual minimum incidence of pediatric 5q SMA in Canada. Recent therapeutic advances and newborn screening have the potential to drastically alter the natural history of SMA. Findings underline the importance of ongoing surveillance of the epidemiology and long-term health outcomes of SMA in the Canadian population.<\/jats:p><\/jats:sec>","DOI":"10.1017\/cjn.2024.1","type":"journal-article","created":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T08:01:37Z","timestamp":1704441697000},"page":"660-671","source":"Crossref","is-referenced-by-count":10,"title":["A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources"],"prefix":"10.1017","volume":"51","author":[{"given":"Tiffany R.","family":"Price","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5908-2694","authenticated-orcid":false,"given":"Victoria","family":"Hodgkinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Westbury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence","family":"Korngut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micheil A.","family":"Innes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian R.","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya N.","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijia","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian","family":"Parboosingh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5795-9955","authenticated-orcid":false,"given":"Jean K.","family":"Mah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2024,1,5]]},"reference":[{"key":"S0317167124000015_ref39","unstructured":"39. Pan-Canadian Pharmaceutical Alliance (pCPA). Evrysdi (risdiplam). URL: https:\/\/www.pcpacanada.ca\/negotiation\/21578. Accessed June 19, 2023."},{"key":"S0317167124000015_ref14","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1038\/s41591-022-01866-4","article-title":"Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the phase III SPR1NT trial","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat Med"},{"key":"S0317167124000015_ref8","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/1750-1172-6-71","article-title":"Spinal muscular atrophy","volume":"6","author":"D\u2019Amico","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"S0317167124000015_ref31","doi-asserted-by":"crossref","first-page":"553","DOI":"10.3233\/JND-200610","article-title":"Burden of spinal muscular atrophy (SMA) on patients and caregivers in Canada","volume":"8","author":"McMillan","year":"2021","journal-title":"J Neuromuscul 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(2003-2014)","volume":"14","author":"Rose","year":"2019","journal-title":"PLoS One"},{"key":"S0317167124000015_ref7","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0022-510X(96)00284-5","article-title":"A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients","volume":"146","author":"Zerres","year":"1997","journal-title":"J Neurol Sci"},{"key":"S0317167124000015_ref10","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N Engl J Med"},{"key":"S0317167124000015_ref13","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the phase 2 NURTURE study","volume":"29","author":"De Vivo","year":"2019","journal-title":"Neuromuscul Disord"},{"key":"S0317167124000015_ref29","doi-asserted-by":"crossref","first-page":"28","DOI":"10.3390\/ijns8020028","article-title":"COVID-19 pandemic-related impacts on newborn screening public health surveillance","volume":"8","author":"Singh","year":"2022","journal-title":"Int J Neonatal Screen"},{"key":"S0317167124000015_ref47","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-022-02260-6","article-title":"An international comparative analysis of public reimbursement of orphan drugs in Canadian provinces compared to European countries","volume":"17","author":"Ward","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"S0317167124000015_ref19","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/0022-510X(94)90192-9","article-title":"Classification of neuromuscular disorders","volume":"124","author":"Rowland","year":"1994","journal-title":"J 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Canadian Neuromuscular Disease Registry. Join the CNDR. URL: https:\/\/cndr.org\/. Accessed February 4, 2023."},{"key":"S0317167124000015_ref34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0230677","article-title":"Diagnostic journey in spinal muscular atrophy: is it still an odyssey?","volume":"15","author":"Pera","year":"2020","journal-title":"PLoS One"},{"key":"S0317167124000015_ref3","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","article-title":"Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number","volume":"119","author":"Wirth","year":"2006","journal-title":"Hum Genet"},{"key":"S0317167124000015_ref26","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1017\/cjn.2021.231","article-title":"Ontario newborn screening for spinal muscular atrophy: the first year","volume":"49","author":"Kernohan","year":"2022","journal-title":"Can J Neurol Sci"},{"key":"S0317167124000015_ref35","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/ejhg.2014.147","article-title":"A mixed methods exploration of families\u2019 experiences of the diagnosis of childhood spinal muscular atrophy","volume":"23","author":"Lawton","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"S0317167124000015_ref38","unstructured":"38. Pan-Canadian Pharmaceutical Alliance (pCPA). Zolgensma (onasemnogene abeparvovec). URL: https:\/\/www.pcpacanada.ca\/negotiation\/21392. Accessed June 19, 2023."},{"key":"S0317167124000015_ref45","unstructured":"45. Canadian Agency for Drugs and Health Technologies in Health (CADTH). CADTH Reimbursement Recommendation: Risdiplam (Evrysdi), August 2021. URL: https:\/\/www.cadth.ca\/sites\/default\/files\/DRR\/2021\/SR0661%20Evrysdi%20Recommendation%20Final.pdf. 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Canadian Paediatric Surveillance Program. About the CPSP. URL: https:\/\/cpsp.cps.ca\/about-apropos. Accessed February 4, 2023."},{"key":"S0317167124000015_ref30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-021-01695-7","article-title":"Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments","volume":"16","author":"Dangouloff","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"S0317167124000015_ref20","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1080\/13696998.2021.2013676","article-title":"Epidemiology, healthcare resource utilization and healthcare costs for spinal muscular atrophy in Alberta, Canada","volume":"24","author":"Chen","year":"2021","journal-title":"J Med Econ"},{"key":"S0317167124000015_ref2","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldk\u00f6tter","year":"2002","journal-title":"Am J Hum Genet"},{"key":"S0317167124000015_ref41","unstructured":"41. Canadian Agency for Drugs and Health Technologies in Health (CADTH). CADTH Reimbursement Recommendation: Nusinersen (Spinraza). Canadian Journal of Health Technologies, August 2022. URL: https:\/\/www.cadth.ca\/sites\/default\/files\/DRR\/2022\/SR0713-Spinraza-Reassessment.pdf. Accessed June 19, 2023."},{"key":"S0317167124000015_ref28","doi-asserted-by":"crossref","first-page":"e007780","DOI":"10.1136\/bmjgh-2021-007780","article-title":"Global impact of COVID-19 on newborn screening programmes","volume":"7","author":"Koracin","year":"2022","journal-title":"BMJ Glob Heal"},{"key":"S0317167124000015_ref5","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/j.nmd.2015.04.009","article-title":"209th ENMC international workshop: outcome measures and clinical trial readiness in spinal muscular atrophy 7-9 november 2014, Heemskerk, the Netherlands","volume":"25","author":"Finkel","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"S0317167124000015_ref21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/cjn.2023.34","article-title":"Variability in newborn screening across Canada: spinal muscular atrophy and beyond","volume":"1","author":"Groulx-Boivin","year":"2023","journal-title":"Can J Neurol Sci"},{"key":"S0317167124000015_ref43","unstructured":"43. Canada\u2019s Drug and Health Technology Agency (CADTH). Onasemnogene abeparvovec (Zolgensma). URL: https:\/\/www.cadth.ca\/onasemnogene-abeparvovec. Accessed June 19, 2023."},{"key":"S0317167124000015_ref36","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1007\/s12035-017-0831-9","article-title":"Time is motor neuron: therapeutic window and its correlation with pathogenetic mechanisms in spinal muscular atrophy","volume":"55","author":"Govoni","year":"2018","journal-title":"Mol Neurobiol"},{"key":"S0317167124000015_ref4","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn M.R.","year":"2008","journal-title":"Lancet"},{"key":"S0317167124000015_ref18","doi-asserted-by":"crossref","first-page":"53","DOI":"10.3233\/JND-200538","article-title":"The Canadian neuromuscular disease registry 2010-2019: a decade of facilitating clinical research through a nationwide, pan-neuromuscular disease registry","volume":"8","author":"Hodgkinson","year":"2021","journal-title":"J Neuromuscul Dis"},{"key":"S0317167124000015_ref25","doi-asserted-by":"crossref","first-page":"42","DOI":"10.3390\/ijns9030042","article-title":"Alberta spinal muscular atrophy newborn screening-results from year 1 pilot project","volume":"27","author":"Niri","year":"2023","journal-title":"Int J Neonatal Screen"},{"key":"S0317167124000015_ref37","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.2147\/TCRM.S172291","article-title":"Clinical evidence supporting early treatment of patients with spinal muscular atrophy: current perspectives","volume":"1153","author":"Dangouloff","year":"2019","journal-title":"Ther Clin Risk Manag"},{"key":"S0317167124000015_ref40","unstructured":"40. INESSS, Institut national d'excellence en sant\u00e9 et services sociaux. Recommendations concerning the information required to monitor nusinersen use in real-world settings (English summary), February 2020. URL: https:\/\/www.inesss.qc.ca\/fileadmin\/doc\/INESSS\/Rapports\/Medicaments\/INESSS_SUMMARY_Avis_Nusinersen.pdf. Accessed June 19, 2023"},{"key":"S0317167124000015_ref42","unstructured":"42. INESSS, Institut national d'excellence en sant\u00e9 et services sociaux. Avis transmis au ministre, November 2020. URL: https:\/\/www.inesss.qc.ca\/fileadmin\/doc\/INESSS\/Inscription_medicaments\/Avis_au_ministre\/Decembre_2020\/20201130_AvisMinistre_Web.pdf. 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