An audit of pregnancy and outcomes in the congenital myasthenic syndromes

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 93; no. 9; p. e2
• Main Authors: Rooney, Tatiana, O’Connell, Karen, Alabaf, Setareh, Ramdas, Sithara, Beeson, David, Palace, Jacqueline
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.09.2022; BMJ Publishing Group LTD
• Subjects: ABN Abstracts 2022; Miscarriage; Pregnancy; Womens health
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp-2022-abn2.5

BackgroundThe congenital myasthenic syndromes(CMS) are a heterogenous group of genetic disorders leading to disordered neuromuscular junction transmission. Due to their rarity, data on pregnancy outcomes is limited.MethodsAll CMS women with documented pregnancy were invited to complete a pregnancy and outcomes audit questionnaire.ResultsAmongst 16 women with CMS there were 27 pregnancies recorded: 26 single and 1 twin pregnancy. CMS related symptom worsening was reported in 63%, (AChR deficiency in 2/6, slow channel syndrome in 2/3, DOK7 in 8/9, RAPSYN in 3/6 and glycosylation {DPAGT1 and GFPT1} in 2/3), improvement was only reported in 2 (both RAPSYN). Recovery to baseline function was seen in all but one patient.Miscarriage and caesarean section occurred in 31% and 33% of women. Over half of patients continued their medication during pregnancy which included: pyridostigmine (10), 3,4-DAP (9), ephedrine (3), salbutamol (3) and quinine (1). No foetal malformations were recorded.DiscussionWe report pregnancy outcomes in a relatively large CMS cohort. Whilst clinical worsening is common, it was usually reversible, and rates of miscarriage and caesarean section appeared similar to the background population.1 Foetal outcomes appeared good and no safety signal was generated in relation to medication use during pregnancy.Reference1. Child and Maternal Health. 3/11/2020]; Available from: https://fingertips.phe.org.uk/profile/ child-health-profiles/data#page/1/gid/1938133222