Percepções sobre a doença de Huntington e realização de testes preditivos em indivíduos com história da doença na família
Authors: Bittencourt Adriana , Lima Renata Lúcia Leite Ferreira de , Moreira Lília Maria De Azevedo 
Published: May 2018

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mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;} --> <!--[endif]--><span style="font-size: 11pt; font-family: ">A doença de Huntington (DH) é uma enfermidade neurodegenerativa hereditária, caracterizada por distúrbios do movimento, transtornos psiquiátricos e demência. É um distúrbio de amplificação gênica associado a uma expansão CAG, no éxon 1 do gene IT-15, localizado em 4p16.3, que codifica a proteína huntingtina. O presente estudo teve o objetivo de analisar a percepção de indivíduos com risco para a doença de Huntington sobre testes preditivos e as consequências emocionais da sua realização. A investigação foi desenvolvida com associados da Associação Brasil Huntington, utilizando-se como instrumento de investigação questionário semiestruturado, encaminhado pela associação por meio correio eletrônico. A análise dos dados obtidos revelou uma maior representatividade de associados das regiões Sul e Sudeste; apenas 6% das respostas foram de indivíduos das regiões Norte e Nordeste. A idade dos entrevistados situou-se entre 17 e 55 anos, e o sexo feminino foi responsável por 75% das informações. A grande maioria (79%) tinha mais de um <span> </span>afetado pela doença na família. Testes preditivos foram realizados apenas por 2 indivíduos, um dos quais não foi buscar o resultado do exame. Na opinião dos associados, desespero e tristeza são os sentimentos mais frequentemente associados à realização de teste preditivo. Percentual minoritário (6%) manifestou atitudes de esperança quanto a possibilidades de tratamentos em decorrência dos avanços tecnológicos. Conclui-se que a falta de perspectivas em curto prazo constitui a principal barreira para a realização de testes preditivos.</span>