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Mol Genet Metab. 2014 Jun;112(2):148-53. doi: 10.1016/j.ymgme.2014.03.010. Epub 2014 Mar 30.

Pregnancy and delivery in women with Pompe disease.

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Villa Metabolica, Centre for Pediatric and Adolescent Medicine, Langenbeckstr. 2, 55131 Mainz, Germany.
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 Halle (Saale), Germany.
Department of Neurology, University Hospital of Bonn, Bonn, Germany.
Department of Neurology, Neuromuscular Centre Ruhrgebiet, University Hospital Bergmannsheil, Ruhr-University Bochum, Buerkle-de-la-Camp-Platz 1, 44789 Bochum, Germany.
Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich, Germany.
Kompetenzzentrum Seltene Stoffwechselkrankheiten, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 Halle (Saale), Germany. Electronic address:



The obstetric risk in patients with Pompe disease (glycogen storage disease type II), a mainly skeletal muscle disorder, is unknown.


The clinical course and the outcome of pregnancy, and the effect of pregnancy on disease manifestations or clinical signs and symptoms in Pompe disease were analyzed retrospectively using a questionnaire. Participating women with Pompe disease were recruited by the German and the UK sections of the International Pompe Association, and by centers associated within the German Pompe Group. The data was compared with information from the German statistical almanac, perinatal registry, and perinatal quality survey.


66 of 136 women responded to the questionnaire (median age: 47 years, range: 18-74). In 10 of 52 women who had been pregnant, the symptoms of Pompe disease were present during pregnancy (n=7 1st, n=1 2nd, n=1 3rd pregnancy). Muscle weakness worsened in 3 women, and first presented in 3 others during the first pregnancy (4.5% each). Respiratory problems deteriorated in 2/10 women during pregnancy. These 10 symptomatic women had 17 pregnancies (15 deliveries, 2 miscarriages, no abortions). The 42 asymptomatic women (63.6%) had 109 pregnancies (72.4% deliveries, 19.3% miscarriages, 7.3% abortions). There were no significant differences between the mean duration of pregnancies or the mean birth weight in symptomatic and asymptomatic women, or compared to the data from the general population. The same was true of pregnancy and delivery complications (including Cesarean section).


Our data show that women with Pompe disease do not appear to have an increased risk of pregnancy or delivery complications. However, muscle weakness and respiratory complications might manifest or worsen during pregnancy in some women.


Delivery; Glycogen storage disease type 2; Pompe disease; Pregnancy complication

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