{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T06:07:06Z","timestamp":1778220426483,"version":"3.51.4"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"vor","delay-in-days":13,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Medizinische Hochschule Hannover (MHH)"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>5q-Spinal muscular atrophy (SMA) is a lower motor neuron disease. However, peripheral organ involvement might contribute to its complex clinical picture, especially in severe forms. This study evaluated frequency and characteristics of autonomic symptoms, prevalence of electrocardiographic (ECG) abnormalities, and the impact of autonomic dysfunction on quality of life (QoL) in adults with SMA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Autonomic function was assessed using the SCales for Outcomes in PArkinson\u2019s disease-Autonomic Dysfunction (SCOPA-AUT). 12-Lead ECG was recorded. The Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), Fatigue Severity Scale (FSS), Beck Depression Inventory (BDI), and 36-Item Short Form Health Survey (SF-36) were collected to assess motor function, fatigue, depression, and QoL.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Forty-three SMA patients (23 males; mean age: 37.6\u2009\u00b1\u200914.1\u00a0years) and forty-three age- and sex-matched healthy controls were included. Compared to healthy controls, SMA patients scored worse on gastrointestinal domain (2.9\u2009\u00b1\u20092.9 vs. 1.1\u2009\u00b1\u20091.5,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001) and in total SCOPA-AUT score (9.8\u2009\u00b1\u20097.3 vs. 5.7\u2009\u00b1\u20094.4,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.002). More severely affected patients reported a greater burden of autonomic symptoms compared to those with milder phenotypes. Burden of autonomic symptoms correlated with QoL (\n                      <jats:italic>\u03c1<\/jats:italic>\n                      \u2009=\u2009\u2212\u20090.33,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.028). The presence of major ECG abnormalities showed a negative correlation with SMA type (\n                      <jats:italic>\u03c1<\/jats:italic>\n                      \u2009=\u2009\u2212\u20090.39,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.027), age at the time of testing (\n                      <jats:italic>\u03c1<\/jats:italic>\n                      \u2009=\u2009\u2212\u20090.45,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.009), and ambulatory status (\n                      <jats:italic>\u03c1<\/jats:italic>\n                      \u2009=\u2009\u2212\u20090.39,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.027).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Adults with SMA demonstrate a substantial burden of autonomic symptoms, especially those with more severe disease. This burden significantly compromises patients\u2019 QoL. Further studies are needed to better understand autonomic dysfunction in this population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00415-025-13446-w","type":"journal-article","created":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T17:57:35Z","timestamp":1760464655000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Beyond motor neurons: autonomic dysfunction and ECG findings in adults with 5q-spinal muscular atrophy"],"prefix":"10.1007","volume":"272","author":[{"given":"Kaan","family":"Bacara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6285-9721","authenticated-orcid":false,"given":"Stevan D.","family":"Stojanovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3035-4638","authenticated-orcid":false,"given":"Camilla","family":"Wohnrade","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6012-8423","authenticated-orcid":false,"given":"Alma","family":"Osmanovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5621-4487","authenticated-orcid":false,"given":"Olivia","family":"Schreiber-Katz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9629-3298","authenticated-orcid":false,"given":"Aiden","family":"Haghikia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9783-8584","authenticated-orcid":false,"given":"Susanne","family":"Petri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1783-703X","authenticated-orcid":false,"given":"Bogdan","family":"Bjelica","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,10,14]]},"reference":[{"key":"13446_CR1","doi-asserted-by":"publisher","first-page":"1348","DOI":"10.1212\/CON.0000000000000918","volume":"26","author":"JR Nance","year":"2020","unstructured":"Nance JR (2020) Spinal muscular atrophy. 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O.S.-K. received academic research support from the Hannover Medical School (MHH) Young Faculty Program, 2018\u20132020, the \u201cEllen-Schmidt-Program\u2014Habilitationsfoerderung fuer Wissenschaftlerinnen\u201d, MHH (2021), and the German Neuromuscular Society \u201cDeutsche Gesellschaft fuer Muskelkranke\u201d (DGM e.V.), 2019\u20132021 (grant no. Sc 23\/1); and received honoraria as a speaker\/consultant and\/or funding for travel expenses from the German Neuromuscular Society \u201cDeutsche Gesellschaft fuer Muskelkranke (DGM e.V.), Biogen GmbH, Biermann Verlag GmbH, and MK\u2009+\u2009S\u2014Medizin, Kommunikation and Service GmbH, outside the submitted work. A.H. has received honoraria as a speaker\/consultant from Alexion, BMS, Galapagos, Kyverna, Medscape, Merck Serono, Neuraxpharm, Roche, Sandos, Sanofi outside of the submitted work. S.P. has received speaker fees, non-financial support and research support from Biogen, Roche, AL-S Pharma, Amylyx, Cytokinetics, Ferrer, ITF Pharma, and Sanofi and served on advisory boards of Amylyx, Biogen, Roche, Zambon and ITF Pharma outside of the submitted work. B.B. received compensation for travel expenses from ITF Pharma GmbH, the German Neuromuscular Society \u201cDeutsche Gesellschaft fuer Muskelkranke (DGM e.V.) and German Society for Clinical Neurophysiology and Functional Imaging (\u201cDeutsche Gesellschaft f\u00fcr Klinische Neurophysiologie und Funktionelle Bildgebung\u201d\u2014DGKN e.V.) and served on advisory boards of Roche all outside of the submitted work. A.O., S.D.S., and K.B. declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interest"}}],"article-number":"694"}}