Avaliação do equilíbrio, desempenho funcional e do metabolismo oxidativo em portadores da doença de Machado-Joseph

Abstract

Introduction: Machado-Joseph Disease (MJD) is a progressive, chronic, neurological disease. It is also called spinocerebellar ataxia type 3. The disease clinical presentation may vary and it can present balance deficit, gait ataxia, blurring of vision, dysphagia, dysartria, etc. Objectives: This study aimed at investigating the body balance, the functional performance, and the oxidative metabolism of subjects with Machado-Joseph disease, who live in Santa Maria, RS, Brazil. Materials and Methods: Through this study it was established a comparison between a Study Group (volunteers with MJD), and a Control Group (volunteers without MJD), in order to verify their limitations, balance alterations, functional performance to accomplish activities of daily living (ADLs) and oxidative metabolism. So, this research was previously evaluated and accepted by the Research Ethics Committee at Universidade Federal de Santa Maria (UFSM). The following evaluations were part of the research: anamnesis of Occupational Therapy, Barthel index, Berg balance scale, dynamic posturography, Comet assay, and biochemical tests. Results: It was possible to observe that the volunteers with MJD present significant impairments related to static balance verified through sensory organization tests (SOTs) of dynamic posturography - SOT I (p = 0.1719); SOT II (p = 0.0035); SOT III (p = <.0001); SOT IV (p = 0.0536); SOT V (p = <.0001); SOT VI (p = <.0001); static and dynamic impairments, verified through Berg balance scale (p = 0.01); important impairments related to functional level to accomplish daily activities were also found (p = 0.02). Oxidative metabolism impairments were also verified carried out through biochemical tests: glucose (p= 0.014), triglycerides (p=0.013), thiol (p=0.000), and catalase (p=0.032); significant data were also found in genotoxicity through the Comet assay - damage 0 (p=0.015) and damage 4 (0.029); it was also observed significant negative correlation among damage 4 and SOT III (r2= -0.551, p=0.041) and SOT VI (r2= -0.593, p= 0.025) for both groups. Conclusion: It is possible to conclude that patients with MJD present more balance impairments, functional limitations to perform ADL, oxidative metabolism and genotoxicity alterations, when compared with the volunteers without MJD. Further studies are suggested to develop possible treatments to improve balance, functional and ADL impairments, as well as studies to verify the impact of nutritional supplementation with antioxidants, and to evaluate the amount of oxidative stress status which could be used to evaluate the MJD progression.