Author(s): Sambayeta, Firmina ; Sousa, Luísa ; Ribeiro, Luís ; Duarte, Sara ; Silva Pinto, Carla ; Martins, João ; Santos, Ernestina
Date: 2024
Origin: SINAPSE
Subject(s): Myasthenic Syndromes, Congenital; Pregnancy Complications; Complicações na Gravidez; Síndromes Miasténicas Congénitas
Congenital myasthenic syndromes (CMS) are genetic conditions characterized by dysfunction of the neuromuscular transmission. There is limited data on pregnancy safety in myasthenia gravis for both mother and child. Retrospective study on pregnant CMS patients who were followed in two tertiary hospitals and their clinical data was analyzed. Sixteen pregnancies from 9 patients with CMS and history of pregnancy were included: one had CHAT, two had DOK-7 and six had CHRNE mutations. Previous reports showed that pregnancy can exacerbate the clinical manifestations of CMS. There are no specific recommendations for the disease during pregnancy. Our work adds sixteen pregnancies of women with CMS, without major complications for the mothers or newborns, except in one woman, with a CHAT mutation, who had significant worsening of her symptoms during pregnancy and post-partum period. The follow-up results of these women by a multidisciplinary team resulted in better outcomes.
