Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy
ABSTRACT Facioscapulohumeral muscular dystrophy ( FSHD) is the second most common adult muscular dystrophy with an estimated prevalence of 1:20 000. The disease is dominantly inherited and linked to a deletion of variable size in a 3.3-kb repetitive DNA sequence on chromosome 4q35. A causative gene has not been identified, and the pathophysiology of the disease remains unclear. It occurs equally in males and females, but women tend to be less severely affected than men. Disease progression is usually slow, and life expectancy is normal, although about 20% of patients become wheelchair bound.(1,2) There is limited information currently available to guide obstetricians and neurologists in counseling women with FSHD who are planning to become pregnant and give birth.(3) The possible effect of pregnancy on the progression of muscle weakness is unknown.
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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 was analysed 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 centres 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 data from the general population. The same was true of pregnancy and delivery complications (including Caesarean section). Conclusions : Our data show that women with Pompe disease do not appear to have and increased risk of pregnancy or delivery complications. However, muscle weakness and respiratory complications might manifest or worsen during pregnancy in some women. Word count: 268Molecular Genetics and Metabolism 06/2014; DOI:10.1016/j.ymgme.2014.03.010 · 2.83 Impact Factor
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ABSTRACT: We report the case of a female patient who developed Pompe's disease when she was 19. She received enzyme replacement therapy from the age of 35, and after three years of treatment the improvement in her clinical condition was such that she was able to consider having a baby. It was the patient's wishes to continue with her treatment throughout the entirety of her pregnancy. There were no complications, but there was a clear deterioration in motor and respiratory functions. She delivered at term by Caesarean section, and the child was healthy. Six months later, we noted an improvement of her motor and respiratory functions. The child was developing normally.Neuromuscular Disorders 01/2013; 23(2). DOI:10.1016/j.nmd.2012.11.006 · 3.13 Impact Factor
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ABSTRACT: Informationen zu Schwangerschaft und Entbindung bei Frauen mit hereditären neuromuskulären Erkrankungen (NMD) sind aufgrund der Seltenheit meist auf kleine Fallserien und Kasuistiken beschränkt.Die Frage, ob erhöhte geburtshilfliche Risiken und eine mögliche Beeinflussung des Krankheitsverlaufes bestehen, ist auch für die genetische Beratung von großer Bedeutung und soll in der vorliegenden Studie untersucht werden.Die Schwangerschaftsverläufe von Frauen mit myotoner Dystrophie Typ 1 (DM1) und Typ 2 (DM2), Charcot-Marie-Tooth-Neuropathie (CMT), proximaler spinaler Muskelatrophie (SMA), Gliedergürtelmuskeldystrophie (LGMD), fazioskapulohumeraler Muskeldystrophie (FSHD) und kongenitaler Myopathie (CM) wurden retrospektiv untersucht. Es wurden 380 Schwangerschaften mit 315 Neugeborenen von 178 Patientinnen dokumentiert.Die Fehlgeburtenrate war im Normbereich. Frühgeburten, vaginale Operation und Kaiserschnitte stellten v. a. bei DM1 und SMA wichtige Komplikationen dar, während fetale Lageanomalien gehäuft bei DM1, LGMD und rollstuhlpflichtigen Patientinnen auftraten. Abgesehen von DM1-Geburten mit kongenitaler Form war der Gesundheitszustand der Neugeborenen gut. Eine erhebliche Verschlechterung während der Schwangerschaft gaben insbesondere Frauen mit LGMD an.Medizinische Genetik 09/2013; 25(3). DOI:10.1007/s11825-013-0410-z · 0.09 Impact Factor