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ABN Abstracts 2022
Parallel Session 1: Muscle, nerve and quality| Wed 18 May, 1115 – 1230|06
An audit of pregnancy and outcomes in the congenital myasthenic syndromes
  1. Tatiana Rooney1,
  2. Karen O’Connell2,
  3. Setareh Alabaf3,
  4. Sithara Ramdas4,
  5. David Beeson5,
  6. Jacqueline Palace1
  1. 1John Radcliffe, Oxford
  2. 2Tallaght University Hospital, Tallaght, Dublin 24, Ireland
  3. 3NDCN, University of Oxford, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital
  4. 4MDUK neuromuscular centre Department of Paediatrics University of Oxford Oxford
  5. 5Department of Clinical Neuroscience, Weatherall Institute of Molecular Medicine, John Radcliffe

Abstract

Background The 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.

Methods All CMS women with documented pregnancy were invited to complete a pregnancy and outcomes audit questionnaire.

Results Amongst 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.

Discussion We 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.

Reference 1. Child and Maternal Health. 3/11/2020]; Available from: https://fingertips.phe.org.uk/profile/ child-health-profiles/data#page/1/gid/1938133222

https://doi.org/10.1136/jnnp-2022-abn2.5

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