Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature review

Marco Fernandes, André Caetano, Miguel Pinto, Elmira Medeiros, Luís Santos

Research output: Contribution to journalReview articlepeer-review


Introduction: Pregnancy among patients with congenital myasthenic syndrome (CMS) is a rare occurrence. Since most of the patients with CMS reach adulthood, questions regarding clinical outcome with pregnancy arise. Case report: We describe a 38-year-old Portuguese female who presented in the second trimester of pregnancy with proximal fluctuating limb-girdle weakness, hyperlordosis, waddling gait, dysphagia, dysphonia and ptosis, with no ophthalmoparesis. Initial diagnosis of seronegative myasthenia, supported by neurophysiology findings, led to unsuccessful treatment with intravenous immunoglobulin, pyridostigmine, prednisolone and plasmapheresis, and the patient slowly progressed to a severe tetraparesis with facial and bulbar involvement. Genetic testing for CMS identified a novel compound heterozygous mutation (c.1124_1127dupTGCC and c.935_936del) in the DOK7 gene. Subsequent treatment with salbutamol resulted in substantial clinical benefit. Conclusions: This case underlines the importance of considering the diagnosis of CMS in patients with fluctuating weakness during pregnancy. Patients of child-bearing potential diagnosed with CMS, particularly due to DOK7 mutations, should be counseled in advance and closely followed during pregnancy.

Original languageEnglish
Article number106591
JournalClinical Neurology And Neurosurgery
Publication statusPublished - Apr 2021


  • Congenital myasthenic syndrome
  • DOK7
  • Neuromuscular junction
  • Pregnancy


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