{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T02:19:37Z","timestamp":1790302777878,"version":"4.1.0"},"reference-count":57,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T00:00:00Z","timestamp":1578441600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2020,1,8]]},"abstract":"<jats:p>Although the value of newborn screening (NBS) for early detection and treatment opportunity in SMA patients is generally accepted, there is still an ongoing discussion about the best strategy in children with 4 and more copies of the SMN2 gene. This gene is known to be the most important but not the only disease modifier.<\/jats:p>\n                  <jats:p>In our SMA-NBS pilot project in Germany comprising 278,970 infants screened between January 2018 and November 2019 were 38 positive cases with a homozygous SMN1 deletion. 40% of them had 4 or more SMN2 copies. The incidence for homozygous SMN1 deletion was 1\u200a:\u200a7350, which is within the known range of SMA incidence in Germany.<\/jats:p>\n                  <jats:p>Of the 15 SMA children with 4 SMN2 copies, one child developed physical signs of SMA by the age of 8 months. Reanalysis of the SMN2 copy number by a different test method revealed 3 copies. Two children had affected siblings with SMA Type III, who were diagnosed only after detection of the index patient in the NBS. One had a positive family history with an affected aunt (onset of disease at the age of 3 years). Three families were lost to medical follow up; two because of socioeconomic reasons and one to avoid the psychological stress associated with the appointments.<\/jats:p>\n                  <jats:p>Decisions on how to handle patients with 4 SMN2 copies are discussed in the light of the experience gathered from our NBS pilot SMA program.<\/jats:p>","DOI":"10.3233\/jnd-200475","type":"journal-article","created":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T09:57:23Z","timestamp":1583229443000},"page":"109-117","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":60,"title":["Infants Diagnosed with Spinal Muscular Atrophy and 4\n                    <i>SMN2<\/i>\n                    Copies through Newborn Screening \u2013 Opportunity or Burden?"],"prefix":"10.1177","volume":"7","author":[{"given":"Wolfgang","family":"M\u00fcller-Felber","sequence":"first","affiliation":[{"name":"Dr. v. Hauner Children\u2019s Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU \u2013 University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Vill","sequence":"additional","affiliation":[{"name":"Dr. v. Hauner Children\u2019s Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU \u2013 University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Muenster University Hospital, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Gl\u00e4ser","sequence":"additional","affiliation":[{"name":"Genetikum\u00a0\u00ae, Center for Human Genetics, Neu-Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uta","family":"Nennstiel","sequence":"additional","affiliation":[{"name":"Screening Center of the Bavarian Health and Food Safety Authority, Oberschleissheim, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brunhilde","family":"Wirth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Center for Molecular Genetics Cologne and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siegfried","family":"Burggraf","sequence":"additional","affiliation":[{"name":"Labor Becker und Kollegen, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wulf","family":"R\u00f6schinger","sequence":"additional","affiliation":[{"name":"Labor Becker und Kollegen, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Becker","sequence":"additional","affiliation":[{"name":"Labor Becker und Kollegen, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Durner","sequence":"additional","affiliation":[{"name":"Labor Becker und Kollegen, Munich, Germany"},{"name":"Department of Operative\/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen, Goethestr. 70, 80336 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Eggermann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Dr. v. 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