{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:12:55Z","timestamp":1792141975820,"version":"4.4.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T00:00:00Z","timestamp":1617148800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T00:00:00Z","timestamp":1617148800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disability. Our objective was to assess the impact of genetic newborn screening for SMA on outcome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We provided clinical data from 43 SMA patients, identified via polymerase chain reaction of the <jats:italic>SMN1<\/jats:italic> gene from dried blood spots between January 2018 and January 2020 in Germany. Follow-up included neurophysiological examinations and standardized physiotherapeutic testing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Detection of SMA with newborn screening was consistent with known incidence in Germany. Birth prevalence was 1:6910; 39.5% had 2 <jats:italic>SMN2<\/jats:italic> copies, 23% had 3 <jats:italic>SMN2<\/jats:italic> copies, 32.5% had 4 copies, and 4.5% had 5 copies of the <jats:italic>SMN2<\/jats:italic> gene. Treatment with SMA-specific medication could be started at the age of 14\u201339\u00a0days in 21 patients. Pre-symptomatically treated patients remained throughout asymptomatic within the observation period. 47% of patients with 2 <jats:italic>SMN2<\/jats:italic> copies showed early, presumably intrauterine onset of disease. These patients reached motor milestones with delay; none of them developed respiratory symptoms. Untreated children with 2 <jats:italic>SMN2<\/jats:italic> copies died. Untreated children with 3 <jats:italic>SMN2<\/jats:italic> copies developed proximal weakness in their first year. In patients with\u2009\u2265\u20094 <jats:italic>SMN2<\/jats:italic> copies, a follow-up strategy of \u201cwatchful waiting\u201d was applied despite the fact that one of them was treated from the age of 6\u00a0months. Two infant siblings with 4 <jats:italic>SMN2<\/jats:italic> copies were identified with a missed diagnosis of SMA type 3.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Identification of newborns with infantile SMA and prompt SMA-specific treatment substantially improves neurodevelopmental outcome, and we recommend implementation in the public newborn screening in countries where therapy is available.\u00a0Electrophysiology is a relevant parameter to support the urgency of therapy. There has to be a short time interval between a positive screening result and referral to a therapy-ready specialized treatment center.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-021-01783-8","type":"journal-article","created":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T07:03:09Z","timestamp":1617174189000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":145,"title":["Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1925-7538","authenticated-orcid":false,"given":"Katharina","family":"Vill","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Blaschek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Gl\u00e4ser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uta","family":"Nennstiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brunhilde","family":"Wirth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siegfried","family":"Burggraf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wulf","family":"R\u00f6schinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Becker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludwig","family":"Czibere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Durner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Olgem\u00f6ller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Harms","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"K\u00f6lbel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"M\u00fcller-Felber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,31]]},"reference":[{"key":"1783_CR1","doi-asserted-by":"publisher","first-page":"100514","DOI":"10.1016\/j.ymgmr.2019.100514","volume":"21","author":"K Hohenfellner","year":"2019","unstructured":"Hohenfellner K, Bergmann C, Fleige T, et al. Molecular based newborn screening in Germany: Follow-up for cystinosis. Mol Genet Metab Rep. 2019;21:100514.","journal-title":"Mol Genet Metab Rep"},{"key":"1783_CR2","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","volume":"28","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular disorders\u202f: NMD. 2018;28:103\u201315.","journal-title":"Neuromuscular disorders : NMD"},{"key":"1783_CR3","doi-asserted-by":"crossref","unstructured":"Wirth B, Karakaya M, Kye MJ, Mendoza-Ferreira N. Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next. 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For patients without written consent, which is congruent with those who did not follow the recommended procedure, no further standardized examinations were carried out. For these patients, we report on the natural course of events known to us.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors have indicated that they don\u2019t have any non-financial conflicts of interest. Financial Disclosure: Astrid Blaschek, Bernhard Olgem\u00f6ller, Erik Harms, Katja Eggermann and Uta Nennstiel have nothing to disclose. Marc Becker is the owner of a commercial entity (Laboratory Becker and colleagues MVZ GbR, F\u00fchrichstra\u00dfe 70, 81871 Munich, Germany). Siegfried Burggraf, Wulf R\u00f6schinger, J\u00fcrgen Durner, Ludwig Czibere are employed at a commercial entity (Laboratory Becker and colleagues MVZ GbR, F\u00fchrichstra\u00dfe 70, 81871 Munich, Germany). Dieter Gl\u00e4ser is the co-owner of a commercial entity (Genetikum\u00ae, Wegenerstr. 15, 89231 Neu-Ulm, Germany). Katharina Vill has received travel expenses and speaker fees from Biogen. Oliver Schwartz has served as a member of a scientific advisory board for Avexis and received travel expenses and speaker fees from Biogen. Heike K\u00f6lbel\u00a0has served as a member of a scientific advisory board for Avexis\u00a0and received travel expenses and speaker fees from Biogen and Sanofi-Aventis. Ulrika Schara has served as a member of a scientific advisory board and data safety monitoring board for Biogen, Avexis and Novartis and received speaker fees from Biogen, Avexis, PTC and Sanofi-Aventis. Brunhilde Wirth has served as a member of a scientific advisory board and data safety monitoring board for SMA Europe and received travel expenses and speaker fees from Biogen. Wolfgang M\u00fcller-Felber has served as a member of a scientific advisory board for Biogen, Avexis, PTC, Sanofi-Aventis, Roche and Cytokinetics and received travel expenses and speaker fees from Biogen, Avexis, PTC and Sanofi-Aventis.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"153"}}