Pregnancy in congenital myasthenic syndrome
- PMID: 23108489
- DOI: 10.1007/s00415-012-6709-x
Pregnancy in congenital myasthenic syndrome
Abstract
Some case reports have suggested possible worsening of the clinical condition of patients with congenital myasthenic syndromes (CMS) during pregnancy. However, this risk has not yet been quantified in a significant number of patients. Using a standardized report form, we reviewed the gynecological and obstetrical medical history of all patients with CMS listed in the French Registry. The data were reviewed with the assistance of the patients to insure accuracy. We report on 17 pregnancies in eight patients with CMS with mutations in CHRNA1, CHRNE, CHRND, GFPT1, COLQ, or DOK7. Symptoms worsened for six patients during at least one of their pregnancies, and one patient required hospitalization in an intensive care unit during the post-partum period. One patient never recovered to the level of her pre-pregnancy clinical condition. Only one caesarean section was performed. The outcome for children was excellent, with the exceptions of a pulmonary artery atresia in the offspring of a mother on pyridostigmin and a newborn with a severe neonatal congenital myasthenic syndrome (an autosomic dominant slow channel transmission). Our study argues in favor of frequent clinical worsening of symptoms during pregnancy in patients with CMS. These patients should be closely followed by neurologists during the course of pregnancy. However, the overall clinical prognosis is good since the vast majority of patients recovered their pre-pregnancy clinical status six months after the delivery.
Similar articles
-
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S45-55. doi: 10.1016/S0035-3787(13)70060-2. Rev Neurol (Paris). 2013. PMID: 23452772 Review. French.
-
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.Brain. 2024 Nov 4;147(11):3849-3862. doi: 10.1093/brain/awae124. Brain. 2024. PMID: 38696726 Free PMC article.
-
Molecular characterization of congenital myasthenic syndromes in Spain.Neuromuscul Disord. 2017 Dec;27(12):1087-1098. doi: 10.1016/j.nmd.2017.08.003. Epub 2017 Aug 18. Neuromuscul Disord. 2017. PMID: 29054425
-
Pregnancy outcomes in patients with congenital myasthenic syndromes.Muscle Nerve. 2022 Sep;66(3):345-348. doi: 10.1002/mus.27653. Epub 2022 Jun 24. Muscle Nerve. 2022. PMID: 35661384
-
Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature review.Clin Neurol Neurosurg. 2021 Apr;203:106591. doi: 10.1016/j.clineuro.2021.106591. Epub 2021 Mar 2. Clin Neurol Neurosurg. 2021. PMID: 33714798 Review.
Cited by
-
Inherited disorders of the neuromuscular junction: an update.J Neurol. 2014 Nov;261(11):2234-43. doi: 10.1007/s00415-014-7520-7. Epub 2014 Oct 11. J Neurol. 2014. PMID: 25305004 Review.
-
Congenital myasthenic syndromes.Orphanet J Rare Dis. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. Orphanet J Rare Dis. 2019. PMID: 30808424 Free PMC article.
-
Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.Eur J Transl Myol. 2017 Sep 20;27(3):6832. doi: 10.4081/ejtm.2017.6832. eCollection 2017 Jun 27. Eur J Transl Myol. 2017. PMID: 29118959 Free PMC article.
-
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.Neuromuscul Disord. 2018 Apr;28(4):315-322. doi: 10.1016/j.nmd.2017.11.013. Epub 2017 Nov 28. Neuromuscul Disord. 2018. PMID: 29395675 Free PMC article.
-
Italian recommendations for diagnosis and management of congenital myasthenic syndromes.Neurol Sci. 2019 Mar;40(3):457-468. doi: 10.1007/s10072-018-3682-x. Epub 2018 Dec 15. Neurol Sci. 2019. PMID: 30554356
References
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
Miscellaneous