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Ataxia espinocerebelar (doença de Machado-Joseph): três relatos de caso

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Author(s): Dayane Alves Brandu00E3o Cyrne | William Malagutti | Anderson Sena Barnabu00E9 | Jou00E3o Victor Fornari | Francisco Sandro Menezes Rodrigues | Renato Ribeiro Nogueira Ferraz

Journal: ConScientiae Saúde
ISSN 1677-1028

Volume: 10;
Issue: 2;
Start page: 346;
Date: 2011;
Original page

ABSTRACT
Introduction: Spinocerebellar ataxias (SCA) are genetic neuro-degenerative diseases that are characterized by a progressive loss of cerebellar neurons. In Brazil, the most common form of SCA is the SCA3, also known as Machado-Joseph Disease (MJD). Objective: To describe the feelings and expectations of the MJD patients about their own illness. Method: We conducted interview with targeted three patients with MJD from the same family. Results and conclusion: The respondents know that the disease is hereditary, have ataxia, dysmetria, motor coordination difficulties and depression. The severity of the disease is perceived through the deaths experienced between family members. The MJD brings major changes in activities of daily living, leading to need help from others. The participants' feelings toward the disease are expressed ambiguously, appearing rebellion and conformity.

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