The outcomes and experience of pregnancy in limb girdle muscular dystrophy type R9

Abstract

Introduction: Published information about the experiences of pregnancy in limb girdle muscular dystrophy (LGMD) is limited and does not specify LGMD type, limiting utility. We describe the experience and outcomes of pregnancy in a cohort of women with LGMD type R9 (LGMDR.Methods: All women 18 y of age or older with a genetic and clinical diagnosis ofLGMDR9 who are enrolled in the University of Iowa Wellstone dystroglycanopathy natural history study (clinicaltrials.gov NCT00313677) were invited to complete a questionnaire about their pregnancy experiences, including questions about pregnancy complications, muscle symptoms experienced during pregnancy, and postpartum course.Results: A total of 22 women responded to the survey. Thirteen women reported 26 live births. The majority of pregnancies that resulted in a live birth were uncomplicated (n = 19, 73%), and most infants had no complications (n = 25, 96%). The rates of assisted vaginal delivery (n = 9, 35%) and induction of labor (n = 18, 70%) were both significantly higher than the national average. Almost half of pregnancies (n = 11, 42%) resulted in increased weakness during pregnancy; only one returned to pre-pregnancy baseline.Discussion: The data presented here suggest that women with LGMDR9 who are considering a pregnancy should be counseled that they might have a higher likelihood of assisted vaginal delivery and could experience progression of weakness. These results are generally consistent with previous reports, but future studies of pregnancy in defined subtypes of LGMD will be required to confirm these findings and determine if risks vary by genotype.

The birth of informed decisions: Pregnancy and muscular dystrophy

“…Awater et al 1 showed significant heterogeneity of experiences and outcomes during pregnancy, delivery, and through the postpartum period in patients with hereditary neuromuscular disorders. Similar to the present study, 7 a persistent worsening of weakness in over half the women with LGMD, in approximately a third with Charcot–Marie Tooth disease and in only 12% with facioscapulohumeral dystrophy (FSHD) was noted 1 . Women with myotonic dystrophy type 1 (DM1) did not report an exacerbation of weakness during pregnancy in this study, but in a large registry study by Johnson and colleagues, women reported significant worsening of mobility, pain, and ability to perform activities during pregnancy compared to 6 mo pre‐pregnancy that did not improve in the 6 mo following pregnancy 1,2 .…”

“…4 In this issue of Muscle & Nerve, Libell et al report on the experiences and outcomes of pregnancy in a focused subset of women with limb girdle muscular dystrophy (LGMD) R9. 7 Normal physiological changes in pregnancy place significant strains on several body systems, many of which may already be challenged in those with neuromuscular disorders. Hematologically, there are dilutional anemia, reduced plasma protein levels and a pro-thrombotic state.…”

“…4 The growing body of information regarding the phenotypic heterogeneity of subtypes of LGMD raises the likelihood that pregnancy effects and outcomes may differ in distinct LGMD subtypes, and speaks to the importance of disaggregating broad disease categories to allow for meaningful prognostication, decision-making, and management. In the current study, Libell et al 7 adjust the lens of research, narrowing the focal point to a retrospective review of obstetric histories in a cohort of women with LGMDR9. The authors report the responses of 22 women with LGMDR9 to a questionnaire that addressed their diagnosis, symptoms during pregnancy, complications related to pregnancy, pregnancy outcomes, return to baseline postpregnancy, and post-partum course.…”

“…However, the rates of assisted vaginal delivery and induced labor were substantially higher than the national average. 7 The increased assisted delivery was postulated to be secondary to smooth muscle involvement as the dystrophindystroglycan complex is present in both smooth and skeletal muscle. 7 As in previous studies, 1,3,4 almost half the women noted more rapid progression of weakness during pregnancy and reported that muscle strength did not return to their pre-pregnancy baseline after delivery.…”

“…The lack of information needed for informed decision‐making may discourage women with MD from parenthood who may otherwise have undertaken pregnancy and gone on to enjoy a fulfilling role as a parent 4 . In this issue of Muscle & Nerve , Libell et al report on the experiences and outcomes of pregnancy in a focused subset of women with limb girdle muscular dystrophy (LGMD) R9 7 …”