{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:12:39Z","timestamp":1777857159582,"version":"3.51.4"},"reference-count":29,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2022,10,26]],"date-time":"2022-10-26T00:00:00Z","timestamp":1666742400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2023,1,3]]},"abstract":"<jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Spinal muscular atrophy (SMA) is a neuromuscular disease caused by homozygous deletion or loss-of-function mutations of the survival of motor neuron 1 (\n                      <jats:italic>SMN1<\/jats:italic>\n                      ) gene, resulting in reduced levels of SMN protein throughout the body. Patients with SMA may have multiple tissue defects, which could present prior to neuromuscular symptoms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To assess the signs, comorbidities and potential extraneural manifestations associated with SMA in treatment-na\u00efve patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      This observational, retrospective and matched-cohort study used secondary insurance claims data from the US IBM\n                      <jats:sup>\u00ae<\/jats:sup>\n                      MarketScan\n                      <jats:sup>\u00ae<\/jats:sup>\n                      Commercial, Medicaid and Medicare Supplemental databases between 01\/01\/2000 and 12\/31\/2013. Treatment-na\u00efve individuals aged\u226465 years with\u22652 International Classification of Diseases, Ninth Revision (ICD-9) SMA codes were stratified into four groups (A\u2013D), according to age at index (date of first SMA code recorded) and type of ICD-9 code used, and matched with non-SMA controls. The occurrence of ICD-9 codes, which were converted to various classifications (phecodes and system classes), were compared between groups in pre- and post-index periods.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>A total of 1,457 individuals with SMA were included and matched to 13,362 controls. Increasing numbers of SMA-associated phecodes and system classes were generally observed from pre- to post-index across all groups. The strongest associations were observed in the post-index period for the youngest age groups. Endocrine\/metabolic disorders were associated with SMA in almost all groups and across time periods.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>This exploratory study confirmed the considerable disease burden in patients with SMA and identified 305 unique phecodes associated with SMA, providing a rationale for further research into the natural history and progression of SMA, including extraneural manifestations of the disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-210764","type":"journal-article","created":{"date-parts":[[2022,10,29]],"date-time":"2022-10-29T04:51:07Z","timestamp":1667019067000},"page":"41-53","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA"],"prefix":"10.1177","volume":"10","author":[{"given":"Julie","family":"Mouchet","sequence":"first","affiliation":[{"name":"F. Hoffmann-La Roche Ltd, Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spyros","family":"Roumpanis","sequence":"additional","affiliation":[{"name":"F. 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Hoffmann-La Roche Ltd, Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Basil T.","family":"Darras","sequence":"additional","affiliation":[{"name":"Department of Neurology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,10,26]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-014-0314-x"},{"key":"e_1_3_4_3_2","unstructured":"DarrasB MonaniU De VivoD. Genetic disorders affecting the motor neuron: Spinal muscular atrophy. In: Swaiman K Ashwal S Ferriero D Schor N Finkel R Gropman A et al. editors. Swaiman\u2019s Pediatric Neurology: Principles and Practice. 6th ed: Elsevier; 2017. pp. 1057\u201364."},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1177"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.11.6307"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.8.1205"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01262-08"},{"key":"e_1_3_4_9_2","unstructured":"OskouiMDB De VivoDC. Spinal Muscular Atrophy: 125 Years Later and on the Verge of a Cure. San Diego California USA: Academic Press; 2017."},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0671-8"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2016.00007"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(99)80012-9"},{"key":"e_1_3_4_13_2","unstructured":"Biogen Inc. SPINRAZA\u00ae (nusinersen) EMA prescribing information 2017 [updated December 2017.Available from: http:\/\/www.ema.europa.eu\/docs\/enGB\/documentlibrary\/EPAR-ProductInformation\/human\/004312\/WC500229704.pdf."},{"key":"e_1_3_4_14_2","unstructured":"Biogen Inc. SPINRAZA\u00ae (nusinersen) US prescribing information 2016 [updated December 2016.Available from: https:\/\/www.accessdata.fda.gov\/drugsatfdadocs\/label\/2016\/209531lbl.pdf."},{"key":"e_1_3_4_15_2","unstructured":"AveXis Inc. 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