Session Information
Date: Tuesday, September 24, 2019
Session Title: Dystonia
Session Time: 1:45pm-3:15pm
Location: Les Muses Terrace, Level 3
Objective: To determine whether female mutation carriers of inherited dopa-responsive (DRD) and DYT/TOR1A genes had higher pregnancy and delivery complications than non-carriers
Background: Women with inherited DRD and DYT/TOR1A related dystonia are frequently symptomatic and treated during their childbearing years. Pregnancy reports in inherited dystonia are scarce and clinical guidelines are lacking
Method: A mailed structured questionnaire was sent to DYT/TOR1A and DRD families ascertained during genetic studies, including affected and unaffected family members and spouses, and in case of no response, the questionnaire was administered over the phone. To evaluate the effect of manifesting dystonia and carrying inherited dystonia genes, individual instances of composite pregnancy and delivery complications were compared between female manifesting-carriers (MC), non-manifesting-carriers (NMC) and non-carrier married-in female relatives (NC), adjusted by age, body mass index and education using generalized estimating equations (GEE) with family as link. To evaluate the effect of medications, number of pregnancy/delivery complications were compared between those taking medications during pregnancy and those who did not
Results: 129 women [40 MC (18 DYT1 and 22 DRD), 60 NMC (50 DYT1 and 10 DRD), 29 NC (25 DYT1 and 4 DRD)]; reported 310 pregnancies (306 carried to term and 15 of them while on dystonia medication: 12 on carbidopa/levodopa and 3 on trihexyphenidyl). 113 events were reported (68 pregnancy complications and 45 delivery complications). MC had the highest number of events followed by NMC and NC (45.26%, 32.31% and 26.09%, p=0.04). When analyzed separately, only MC with DYT/TOR1A but not those with DRD had higher rates of pregnancy and delivery complications. No differences were found among MC who took medications during pregnancy, although numbers were small
Conclusion: Women with dystonia secondary to DYT/TOR1A mutations may be at higher risk of pregnancy and delivery complications. Greater severity of dystonic symptoms or specific DYT/TOR1A gene effects in MC may underlie these findings, particularly as in DYT/TOR1A treatment may be less satisfactory. Women with DYT1 dystonia may require closer monitoring of their pregnancies and deliveries, although further studies are needed
To cite this abstract in AMA style:
M. San Luciano, V. Shanker, S. Bressman, D. Raymond, R. Saunders-Pullman. Pregnancy and Delivery Complications in Women with Inherited Isolated Dystonia [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/pregnancy-and-delivery-complications-in-women-with-inherited-isolated-dystonia/. Accessed May 17, 2025.« Back to 2019 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/pregnancy-and-delivery-complications-in-women-with-inherited-isolated-dystonia/