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Case Rep Obstet Gynecol. 2012;2012:137861. doi: 10.1155/2012/137861. Epub 2012 Dec 10.

Management of a pregnancy complicated by pompe disease.

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Division of Clinical and Biochemical Genetics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, IB 130, Indianapolis, IN 46202, USA.



As more women with metabolic muscle diseases reach reproductive age, knowledge of these diseases and their impact on pregnancy is necessary.


23-year-old G1P0 with juvenile-onset Pompe disease (PD) delivered a viable infant by cesarean section at 32 weeks and 6 days. The pregnancy was complicated by worsening maternal pulmonary status, muscular strength, and mobility.


The management of pregnancies complicated by Pompe disease requires a multidisciplinary approach, including expertise in neuromuscular disease, maternal-fetal medicine, biochemical genetics, pulmonology, anesthesia, and dietetics.

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