Obstetric outcomes and effects from COL6A3-associated-Bethlem myopathy: A case report

Poster Session E - Monday, March 31, 2025, 2:30 – 4:30 pm EDT, Back Bay Ballroom/Republic Ballroom

Ajay Nair¹ (ajay.nair@rockets.utoledo.edu), Sabeena Malik², James VanHook¹; ¹University of Toledo College of Medicine and Life Sciences, ²Promedica Neurosciences Center ProMedica Toledo Hospital Medical Complex

Introduction: Muscular myopathies affect various aspects of a patient's life, and have even been implicated in impacting a patient’s obstetric experience as well. Research on this topic is quite limited. Multiple papers have documented variable effects of different muscular pathologies on pregnancy, yet no study has been done outlining this process for bethlem myopathy. Here is a presented case of autosomal dominant COL6A3-associated bethlem myopathy with multiple pregnancies to help clear this gap in knowledge. Methods: The case report was conducted through a retrospective chart review along with interviewing the patient on obstetric and disease factors not included or detailed in the chart. Results: Despite being advised to avoid pregnancy, the patient had a 100% conceptions and delivery rate for three pregnancies. The patient’s symptoms of muscle wasting, spasms, cramps, numbness and pain that developed over the years improved during each pregnancy and continued, with significant reduction of pain, numbness, and weakness and noticeable decline in rate of muscle wasting. The patient experienced excessive back pain during birth, but had no issues contracting and delivered all children vaginally. The patient's second child had an extended NICU stay due to an umbilical cord abnormality. Conclusion: Bethlem myopathy remains a challenging condition to navigate for patients, but with the data provided, it can be assumed that pregnancies for these patients can be done under strict care and monitoring, potentially providing beneficial outcomes during and afterward.

Topic Area: OTHER