FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY - ASPECTS OF GENETIC-COUNSELING, ACCEPTANCE OF PRECLINICAL DIAGNOSIS, AND FITNESS

A questionnaire about the interest in and demand for preclinical diagn osis for facioscapulohumeral muscular dystrophy (FSH) was sent to 46 p atients. Most stated that they would have liked to have known their di agnosis earlier in order to seek more efficient help, to avoid strenuo us activities, to prepare themselves emotionally, or to choose an appr opriate profession. Similar arguments were used to explain their inter est in preclinical diagnosis for their children. Most patients also fa voured prenatal diagnosis although only two stated they would abort a pregnancy in the case of an affected fetus. Genetic counselling had ap parently little influence on family planning. According to this study, FSH does not seem to reduce reproductive performance in our populatio n.