Abstract：
A 38-year-old pregnant woman presented at 30 weeks gestation in respiratory distress with pre-eclampsia. This was on the background of slowly progressive dyspnoea over six years, with generalised weakness and previous surgery for ptosis and prognathia. After successful caesarean delivery at 31 weeks, the patient was found to have a homozygous likely pathogenic variant in the MYOD1 gene. This case presents a milder phenotype for MYOD1 congenital myopathy, usually associated with diaphragmatic defects, respiratory insufficiency and dysmorphic facies. It also highlights the difficulties of managing an undiagnosed patient through pregnancy.
摘要：
一名38岁的孕妇在妊娠30周时出现呼吸窘迫并伴有先兆子痫。这是在六年来缓慢进展的呼吸困难的背景下，伴有全身无力和先前的上睑下垂和前颌畸形手术。31周成功剖腹产后，发现患者在MYOD1基因中具有纯合的可能致病变异.该病例表现为MYOD1先天性肌病的轻度表型，通常与膈肌缺陷有关，呼吸功能不全和异形相。它还强调了在怀孕期间管理未确诊患者的困难。
