RESUMO
INTRODUCTION: Type 2 spinocerebellar ataxia is a hereditary degenerative disorder of the nervous system. Advances in molecular genetics have made it possible to carry out presymptomatic and prenatal studies. A programme to define the strategies and principles for doing this has been devised. OBJECTIVE: To find the level of acceptance of prenatal diagnosis in couples at risk, and to determine the effect of different variables on this acceptance. PATIENTS AND METHODS: We made a descriptive type study of a series of cases. The study group included 226 persons. Forty of these were couples of descendents and the remainder were asymptomatic descendents. We applied a questionnaire, after prior information as to the aims of the study and obtaining the consent of the participants. RESULTS: Regarding acceptance of prenatal diagnosis by couples of descendents, we found that most (77.5%) accepted this and only 2.5% did not. Prenatal diagnosis was accepted by 67.74% of the descendents themselves. CONCLUSIONS: In general there was a high level of acceptance. 159 of the 226 questioned claimed that they would like to have more children and 98.7% of these accepted the test, whilst only 0.01% refused it. The main reasons given were the hope of having healthy children and that the disease would not occur in future generations.
