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Although effective treatments are available, CMS is probably underdiagnosed, and systematic clinico-genetic investigations are warranted.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We used a nationwide approach to collect Austrian patients with genetically confirmed CMS. We provide a clinical and molecular characterization of this cohort and aimed to ascertain the current frequency of CMS in Austria.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Twenty-eight cases with genetically confirmed CMS were identified, corresponding to an overall prevalence of 3.1 per million (95% CI 2.0\u20134.3) in Austria. The most frequent genetic etiology was <jats:italic>CHRNE<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u200913), accounting for 46.4% of the cohort. Within this subgroup, the variant c.1327del, p.(Glu443Lysfs*64) was detected in nine individuals. Moreover, causative variants were found in <jats:italic>DOK7<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20094), <jats:italic>RAPSN<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20093), <jats:italic>COLQ<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20092), <jats:italic>GMPPB<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20092), <jats:italic>CHAT<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20091), <jats:italic>COL13A1<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20091), <jats:italic>MUSK<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20091) and <jats:italic>AGRN<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20091). Clinical onset within the first year of life was reported in one half of the patients. Across all subtypes, the most common symptoms were ptosis (85.7%), lower limb (67.9%), upper limb (60.7%) and facial weakness (60.7%). The majority of patients (96.4%) received specific treatment, including acetylcholinesterase inhibitors in 20, adrenergic agonists in 11 and 3,4-diaminopyridine in nine patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our study presents the first systematic characterization of individuals with CMS in Austria, providing prevalence estimates and genotype\u2013phenotype correlations that may help to improve the diagnostic approach and patient management.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-022-11440-0","type":"journal-article","created":{"date-parts":[[2022,10,29]],"date-time":"2022-10-29T05:02:41Z","timestamp":1667019761000},"page":"909-916","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study"],"prefix":"10.1007","volume":"270","author":[{"given":"Martin","family":"Krenn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merve","family":"Sener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Rath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun","family":"Zulehner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Keritam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matias","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Laccone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Iglseder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Marte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Baumgartner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Eisenk\u00f6lbl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Liechtenstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Rudnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Quasthoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Grinzinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Spenger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia B.","family":"Wortmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang N.","family":"L\u00f6scher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fritz","family":"Zimprich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kellersmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mika","family":"Rappold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcnther","family":"Bernert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Freilinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9009-7261","authenticated-orcid":false,"given":"Hakan","family":"Cetin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,10,29]]},"reference":[{"key":"11440_CR1","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1097\/WCO.0000000000000736","volume":"32","author":"AE Vanhaesebrouck","year":"2019","unstructured":"Vanhaesebrouck AE, Beeson D (2019) The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies. 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