Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy

Department of Obstetrics and Gynecology, University of Rochester, Rochester, New York, United States
Neurology (Impact Factor: 8.29). 12/2006; 67(10):1887-9. DOI: 10.1212/01.wnl.0000244471.05316.19
Source: PubMed


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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    • "The questionnaires previously used in neuromuscular disorders have not yet been published [6] [7] [8] [9] [10]. The newly designed questionnaire included information regarding onset of muscle disease, age at pregnancy , number of pregnancies, pregnancy duration and outcome (including voluntary abortion, miscarriages, perinatal death), birth weight, pregnancy events (breech presentation, bleedings, premature delivery), labor and postpartum complications, worsening of muscle weakness during pregnancy, and complications in the newborn . "
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