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INTRODUCTION/AIMS: The congenital myasthenic syndromes (CMS) are a heterogenous group of inherited disorders that affect neuromuscular junction transmission. Due to their rarity, data on pregnancy outcomes is limited. We sought to explore this in a large CMS cohort attending a national specialty clinic in England. METHODS: All women with CMS who had a documented pregnancy were invited to complete a questionnaire assessing clinical status during pregnancy and post-partum, pregnancy outcomes, foetal outcomes and medication use during pregnancy. RESULTS: Among 16 women with CMS (acetylcholine receptor deficiency {CHRNE}, slow channel syndrome {CHRNA1}, DOK7, RAPSYN and glycosylation {DPAGT1 and GFPT1}), there were 27 pregnancies recorded: 26 single 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 Caesarean section occurred in 31% and 33% of women respectively. Over half of patients continued on their medication during pregnancy, which included pyridostigmine (n=10), 3,4-Diaminopyridine (n=9), ephedrine (n=3), salbutamol (n=3) and quinidine (n=1). No foetal malformations were recorded. DISCUSSION: Our results show that clinical worsening during pregnancy is common, but is rarely persistent, and that the majority of women can safely plan pregnancy but need close follow-up by their treating neurology and obstetric teams. Continued medication use should be reviewed on a case by case basis but no safety concerns were identified. This article is protected by copyright. All rights reserved.

Original publication




Journal article


Muscle Nerve

Publication Date



congenital myasthenia syndrome, neuromuscular disorders, pregnancy