title: Pregnancy and delivery in women with Pompe disease.
abstract: BACKGROUND
  The obstetric risk in patients with Pompe disease (glycogen storage disease type II), a mainly skeletal muscle disorder, is unknown.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Villa Metabolica, Centre for Pediatric and Adolescent Medicine, Langenbeckstr. 2, 55131 Mainz, Germany.
authors.forename: Nesrin
authors.initials: N
authors.lastname: Karabul
authors.affiliation: Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 Halle (Saale), Germany.
authors.forename: Janine
authors.initials: J
authors.lastname: Berndt
authors.affiliation: Department of Neurology, University Hospital of Bonn, Bonn, Germany.
authors.forename: Cornelia
authors.initials: C
authors.lastname: Kornblum
authors.affiliation: Department of Neurology, Neuromuscular Centre Ruhrgebiet, University Hospital Bergmannsheil, Ruhr-University Bochum, Buerkle-de-la-Camp-Platz 1, 44789 Bochum, Germany.
authors.forename: Rudolf A
authors.initials: RA
authors.lastname: Kley
authors.affiliation: Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Wenninger
authors.affiliation: Kompetenzzentrum Seltene Stoffwechselkrankheiten, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Nikolaus
authors.initials: N
authors.lastname: Tiling
authors.affiliation: Villa Metabolica, Centre for Pediatric and Adolescent Medicine, Langenbeckstr. 2, 55131 Mainz, Germany.
authors.forename: Eugen
authors.initials: E
authors.lastname: Mengel
authors.affiliation: Kompetenzzentrum Seltene Stoffwechselkrankheiten, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Ursula
authors.initials: U
authors.lastname: Plöckinger
authors.affiliation: Department of Neurology, Neuromuscular Centre Ruhrgebiet, University Hospital Bergmannsheil, Ruhr-University Bochum, Buerkle-de-la-Camp-Platz 1, 44789 Bochum, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Vorgerd
authors.affiliation: Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 Halle (Saale), Germany.
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
authors.affiliation: Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich, Germany.
authors.forename: Benedikt
authors.initials: B
authors.lastname: Schoser
authors.affiliation: Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 Halle (Saale), Germany. Electronic address: frank.hanisch@medizin.uni-halle.de.
authors.forename: Frank
authors.initials: F
authors.lastname: Hanisch
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D036861:Delivery, Obstetric / Q000706:statistics & numerical data; D005260:Female; D005858:Germany; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000453:epidemiology* / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D007744:Obstetric Labor Complications / Q000453:epidemiology*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000453:epidemiology* / Q000503:physiopathology; D011256:Pregnancy Outcome / Q000453:epidemiology*; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D006113:United Kingdom; D055815:Young Adult
keywords: Delivery; Glycogen storage disease type 2; Pompe disease; Pregnancy complication