Title : Obstetric outcomes and effects from COL6A3-associated-bethlem myopathy
Abstract:
Muscular myopathies affect various aspects of a patient's life and have even been implicated in impacting a patient’s obstetric experience as well. For example, facioscapulohumeral muscular dystrophy (FSHD) and myotonic dystrophy (DMD) have both been associated with an increased level of weakness during pregnancy with a lack of return to baseline postpartum, as well as an increase in rates of complications such as peripartum hemorrhage and preterm birth. Research on this topic is quite limited though, as studies examining this topic are currently very scarce. Multiple studies have documented variable effects of different muscular pathologies on pregnancy, including adverse effects on neonates as well such as intrauterine growth restriction and congenital malformations. Despite this, there has not been any study investigating the same variables for Bethlem Myopathy. Bethlem Myopathy remains a difficult disease to manage for patients who aim to or are pregnant, requiring further investigation and studies to be conducted to bridge this gap to benefit patient outcomes and concerns.
Here we discuss a case of a patient with Bethlem Myopathy COL6A3 variant and her experience in becoming pregnant and birthing multiple children with her condition. This includes the patient's history and symptoms of myopathy along with effects on daily life, the patient's obstetric history including number of children, difficulty obtaining pregnancy, any symptom changes during pregnancy or postpartum, complications during pregnancy, childbirth, and postpartum, and any lasting changes after pregnancy with myopathy. This provides more data to the limited knowledge of the various effects the disease has on pregnancy, birth, and postpartum for patients who conceive and deliver, while guiding healthcare workers on how to manage and counsel these complex patients when presented with pregnancy.
Audeince Takeawy Notes:
- Will learn novel information on fetal outcomes for patients with Bethlem Myopathy.
- Be able to properly counsel and advise patients with Bethlem Myopathy on what happens with pregnancy and delivery with their disease.
- Learn how Bethlem Myopathy affects patients during and after delivery (how symptoms change and are affected).
- Implications of pregnancy and its complications due to Bethlem Myopathy.
- Give inspiration for more research and studies to be done to further help patients with Bethlem Myopathy have a clearer picture of what their disease entails.
- Learn about Bethlem Myopathy and its various effects.
