Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness.

AUTOR(ES)

Eggers, S

RESUMO

A questionnaire about the interest in and demand for preclinical diagnosis for facioscapulohumeral muscular dystrophy (FSH) was sent to 46 patients. Most stated that they would have liked to have known their diagnosis earlier in order to seek more efficient help, to avoid strenuous activities, to prepare themselves emotionally, or to choose an appropriate profession. Similar arguments were used to explain their interest in preclinical diagnosis for their children. Most patients also favoured prenatal diagnosis although only two stated they would abort a pregnancy in the case of an affected fetus. Genetic counselling had apparently little influence on family planning. According to this study, FSH does not seem to reduce reproductive performance in our population.

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