{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T23:07:08Z","timestamp":1788217628604,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,6,24]],"date-time":"2022-06-24T00:00:00Z","timestamp":1656028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>The congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited disorders that affect neuromuscular junction transmission. Data on pregnancy outcomes in women with CMS are limited due to their infrequency. In this study we explored pregnancy with CMS in a large cohort of women attending a national specialty clinic in England.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>All women with CMS who had a documented pregnancy were invited to complete a questionnaire assessing clinical status during pregnancy and postpartum, pregnancy outcomes, fetal outcomes, and medication use during pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 16 women with CMS (acetylcholine receptor deficiency [<jats:italic>CHRNE<\/jats:italic>], slow channel syndrome [<jats:italic>CHRNA1<\/jats:italic>], <jats:italic>DOK7<\/jats:italic>, <jats:italic>RAPSYN<\/jats:italic> and glycosylation [<jats:italic>DPAGT1<\/jats:italic> and <jats:italic>GFPT1<\/jats:italic>]), 27 pregnancies were recorded: 26 single pregnancies and 1 twin pregnancy. Symptom worsening was reported in 63% of pregnancies, but recovery to baseline function was seen in all but one patient. Miscarriage and cesarean section occurred in 31% and 33% of the women, respectively. Over half of the patients continued taking their medication during pregnancy, which included pyridostigmine (n\u00a0=\u00a010), 3,4\u2010diaminopyridine (n\u00a0=\u00a09), ephedrine (n\u00a0=\u00a03), salbutamol (n\u00a0=\u00a03), and quinidine (n\u00a0=\u00a01). No fetal malformations were recorded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Our results show that clinical worsening during pregnancy was common but rarely persistent. The majority of women with CMS can safely plan pregnancy, but close follow\u2010up is required from their neurology and obstetric teams. Although we identified no safety concerns, continued medication use should be reviewed on a case\u2010by\u2010case basis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27653","type":"journal-article","created":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T05:09:55Z","timestamp":1654492195000},"page":"345-348","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Pregnancy outcomes in patients with congenital myasthenic syndromes"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7191-1448","authenticated-orcid":false,"given":"Karen","family":"O'Connell","sequence":"first","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Rooney","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Setareh","family":"Alabaf","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sithara","family":"Ramdas","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology John Radcliffe Hospital  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Beeson","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital University of Oxford  Oxford UK"},{"name":"Neurosciences Group, Weatherall Institute of Molecular Medicine University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Palace","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000736"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/nyas.13538"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.12.005"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26410"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6709-x"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.09.002"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.013"},{"key":"e_1_2_11_9_1","unstructured":"Child and Maternal Health.https:\/\/fingertips.phe.org.uk\/profile\/child-health-profiles\/data#page\/1\/gid\/1938133222. Accessed March 11 2020."},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-64240-0.00012-X"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27653","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.27653","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27653","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T05:29:06Z","timestamp":1692682146000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.27653"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,24]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1002\/mus.27653"],"URL":"https:\/\/doi.org\/10.1002\/mus.27653","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,24]]},"assertion":[{"value":"2021-08-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}