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; 112(2). DOI:10.1016/j.ymgme.2014.03.010 · 2.83 Impact Factor
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ABSTRACT: In this paper, a procedure is described for converting a perturbed matrix with mixed unstructured and structured uncertainties to the form of a linear fractional transformation (LFT). Also, a criterion is given for keeping the nonsingularity of the perturbed matrix, provided it is nominally so. Moreover, based on the conversion method and criterion, explicit bounds on the time-varying uncertainties in continuous-time and discrete-time systems are derived for robust stabilityDecision and Control, 1994., Proceedings of the 33rd IEEE Conference on; 01/1995
Article: Neuromuscular diseases in pregnancy[Show abstract] [Hide abstract]
ABSTRACT: Neuromuscular disease in pregnancy is a broad topic and includes focal neuropathies that occur with increased incidence during pregnancy and the puerperium, as well as preexisting inherited neuropathies or myopathies and chronic autoimmune diseases such as myasthenia gravis and chronic inflammatory demyelinating polyneuropathy. Although the precise etiology of the focal neuropathies is not completely understood, they do seem to be a direct effect of pregnancy or delivery. In most cases, prognosis for complete recovery is good. The incidence of inherited and autoimmune neuromuscular diseases in women of childbearing age is relatively rare, and our knowledge of their impact in pregnancy is limited. Most are able to deliver healthy infants; however, these patients present specific challenges to the neurologist and obstetrician. The most recent literature on this topic is reviewed.Seminars in Neurology 12/2007; 27(5):460-6. DOI:10.1055/s-2007-991122 · 1.78 Impact Factor