ArticlesSigns and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study
Section snippets
Background
Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of definite carriers to estimate the proportion and to assess the clinical profile of carriers with symptoms. We also assessed a possible correlation between genotype and phenotype.
Methods
Carriers of DMD and BMD, aged 18–60
Patients
Carriers of DMD and BMD were traced through the files at the Department of Human Genetics, University of Leiden, where registration of all familes affected by DMD and BMD has been kept since 1982. Carriers were considered to be definite when: they were found to be obligate carriers after pedigree analysis (definite X-linked inheritance); when a mutation in the dystrophin gene was found; or when linkage analysis revealed a chance of more than 99% for carriership.21, 22 Furthermore, when linkage
Results
A list of 275 names of definite carriers (198 DMD, 77 BMD) aged 18–60 years was extracted from the files of the Department of Human Genetics, Leiden. Seven carriers had died or were too ill to be included, leaving 268 names (193 DMD, 75 BMD). For 16 carriers (14 DMD, two BMD) no address could be found, and 28 carriers (26 DMD, two BMD) were not invited for logistical reasons. A total of 224 letters (153 DMD, 71 BMD) were sent out. 44 carriers (31 DMD, 13 BMD) did not respond to the invitation
Discussion
In this study we tried to include as many carriers within each family as possible to keep ascertainment bias to a minimum. However, we had no information about the carriers who did not respond to our invitation and only occasional information about the women who refused to participate. A selection bias may therefore have occurred towards carriers who had complaints and who wanted confirmation of their complaints by means of our study. On the other hand, eight (36%) carriers with muscle weakness
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