Clinical genetic aspects of Duchenne and Becker muscular dystrophy in the Netherlands

Abstract

Dystrophinopathies include the well known Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). This thesis is a collection of several clinical and genetic studies on dystrophinopathies with implications for genetic counselling of patients and their families and for future therapy (e.g. personalized medicine) of patients suffering from this group of chronic progressive muscle diseases. The following recommendations are made: - Testing for dystrophinopathies in newborn boys on a voluntary basis should start as soon as possible in the Netherlands. This will reduce the chance of the birth of subsequent affected boys in the family and will also help in early introduction of possible therapy when this becomes available. - Parents should be given the choice of having their daughters tested prenatally, if foetal DNA is available. They should also be encouraged to have their daughters tested, even before adulthood. This will not only considerably reduce the incidence of DMD but will also ease the burden for the parents who have to inform their daughter of their future risks. - Genetic counsellors should have a more active approach to cascade screening and informing the patients and their families of their risks and possibilities.