文章基本信息

标题：Perfil dos portadores da Doena de Huntington no Brasil
本地全文：下载
作者：Mariana Oliveira Ramalho Cariman ; Luís Fernando Castagnino Sesti
期刊名称：Research, Society and Development
电子版ISSN：2525-3409
出版年度：2022
卷号：11
期号：7
页码：1-10
DOI：10.33448/rsd-v11i7.29565
语种：English
出版社：Grupo de Pesquisa Metodologias em Ensino e Aprendizagem em Ciências
摘要：Huntington's Disease is a progressive neurodegenerative disorder of genetic and autosomal dominant origin. In Brazil, there are no official data on the prevalence of Huntington's Disease, which can lead to difficulties in its diagnosis and in the multidisciplinary follow-up of the patient, so the objective of this study is to describe the profile of Huntington's Disease carriers in Brazil presenting difficulties for diagnosis and treatment of symptoms. The research was carried out by filling out an online questionnaire, using the Google Forms tool, by people with Huntington's Disease, family members or caregivers. We obtained 80 research participants, 55 female and 24 male. Most of them, 43.80%, are not aware of the amount of repetitions of the CAG nucleotides and 40% have 40 to 55 repetitions, which are related to the intensity of symptoms and age of onset. The most frequent initial symptoms were motor, present in 41.3% of the individuals, followed by 22.5% psychiatric, 27.5% had motor and psychiatric disorders, 3.8% cognitive and motor, 2.5% only of cognitive and 1.3% psychiatric and cognitive. Most users, both from the private health network and from the Unified Health System, are dissatisfied with the services offered to treat the symptoms of this disease. There is a need for greater dissemination of Huntington's Disease in the country in order to make molecular diagnosis accessible and multidisciplinary follow-up possible, thus improving the quality of life of patients.
关键词：Huntington's Disease;Epidemiology;Brazil.