{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T20:42:54Z","timestamp":1785357774783,"version":"3.55.0"},"reference-count":48,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T00:00:00Z","timestamp":1734652800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T00:00:00Z","timestamp":1734652800000},"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":[[2025,3]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Spinal Muscular Atrophy (SMA) leads to motor neuron loss, with progressive muscle weakness and wasting. Nationwide registries for neuromuscular diseases are pivotal for assessing epidemiology, preparing for clinical trials, and for adopting standardized management guidelines.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>This paper aims to present data gathered during the establishment of Pakistan's inaugural registry for genetically confirmed SMA cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this retrospective study, 215 participants with genetically confirmed SMA were recruited. Telephonic interviews were conducted to collect data for the Muscular Disease Registry of Pakistan that was analyzed using STATA version 17.0.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      SMA type 1 was the most common type (71.2%, n\u2009=\u2009153). Amongst patients who were tested for survival motor neuron (\n                      <jats:italic toggle=\"yes\">SMN2<\/jats:italic>\n                      ) copies, the majority (84.4%, n\u2009=\u2009168) had two\n                      <jats:italic toggle=\"yes\">SMN2<\/jats:italic>\n                      copies. SMA types were significantly associated with the ability to sit (p\u2009&lt;\u20090.001) and walk (p\u2009&lt;\u20090.001), and usage of a wheelchair (p\u2009=\u20090.0054).\n                      <jats:italic toggle=\"yes\">SMN2<\/jats:italic>\n                      copy numbers were significantly associated with the ability to sit (p\u2009=\u20090.020) and walk (p\u2009=\u20090.031).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study highlights the high prevalence of SMA genotypes and phenotypes associated with severe disease in our population. Our findings reiterate the challenging prognosis for Pakistani children with SMA and underscore the necessity of the development of nationwide newborn screening programs and making treatments available.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602241301657","type":"journal-article","created":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T08:57:27Z","timestamp":1734685047000},"page":"260-270","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan"],"prefix":"10.1177","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-1738-0524","authenticated-orcid":false,"given":"Bisma","family":"Aziz","sequence":"first","affiliation":[{"name":"Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0237-9937","authenticated-orcid":false,"given":"Ahmed A","family":"Arif","sequence":"additional","affiliation":[{"name":"Department of Public Health Sciences, University of North Carolina at Charlotte, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0284-9677","authenticated-orcid":false,"given":"Kulsum","family":"Kazi","sequence":"additional","affiliation":[{"name":"Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salman","family":"Kirmani","sequence":"additional","affiliation":[{"name":"Chair and Director, Center of Women and Child Health, Aga Khan University, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeeshan","family":"Ansar","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Lab Medicine, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asghar","family":"Nasir","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Lab Medicine, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4018-6594","authenticated-orcid":false,"given":"Shahnaz Hamid","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khairunnisa Mukhtiar","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Hasan","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4370-6188","authenticated-orcid":false,"given":"Sara","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,12,20]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241511939"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-71"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27358"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.01.003"},{"key":"e_1_3_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24497"},{"key":"e_1_3_5_7_2","unstructured":"CureSMA. 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