Composição corporal e função muscular em pacientes com doença de Pompe de início tardio

Abstract

Abnormalities in body composition, which may range from low bone mineral density and malnutrition to sarcopenic obesity, are common in Pompe disease and are exacerbated by a combination of factors frequently observed in patients, such as reduced mobility, decreased energy expenditure, oral and gastrointestinal dysfunctions, and difficulty meeting the recommended protein intake. In this context, the aim of this study was to investigate the association between body composition and muscle function in patients with Pompe disease. To achieve this, an observational, cross-sectional, and descriptive study was conducted with patients followed at the neurology outpatient clinic of the Onofre Lopes University Hospital. Body composition, skeletal muscle function, and nutritional status were assessed using dual-energy X-ray absorptiometry (DEXA), Handgrip Strength Test (HGS), and Body Mass Index (BMI). Data were analyzed using descriptive statistics, with the level of statistical significance set at p < 0.05. Fisher's Exact Test was used to evaluate associations between variables, and effect size was analyzed using the Phi coefficient (φ). Seven adult individuals participated in the study. Most were female, received enzyme replacement therapy (ERT), and presented with normal nutritional status, very high body fat percentage, adequate handgrip strength, and normal bone mineral density. All patients undergoing ERT demonstrated adequate HGS values. Additionally, patients with sarcopenic obesity exhibited low HGS. It is concluded that enzyme replacement therapy is significantly associated with the preservation of muscle strength in patients with Pompe disease