Metabolic Syndrome in patients with Duchenne Muscular Dystrophy

• Grant number: 22/05634-7
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: September 01, 2022
• End date: August 31, 2024
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Marcondes Cavalcante Franca Junior
• Grantee: Marcela Misao Miyata
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in children, segregating as an X-linked recessive trait, in which the dystrophin gene is mutated. As a result, there is a progressive degeneration of skeletal muscles. Metabolic syndrome, in turn, is determined from risk factors for cardiovascular diseases, such as dyslipidemia, abnormal glucose regulation, central adiposity and arterial hypertension. According to the International Diabetes Federation, metabolic syndrome is defined as the presence of central adiposity and two other risk factors. Many patients with DMD tend to have central obesity and other aspects of the metabolic syndrome as a result of several aspects of the disease, such as decreased daily energy expenditure, physical activity level and mobility with the progression of muscle activity degeneration, in addition to related to the use of corticosteroids, daily energy intake, disease severity, body composition, age at diagnosis, type of mutation and increase in BMI, with weight gain and short stature of individuals affected with DMD.Therefore, the research project presented delimits a cross-sectional study, whose objectives are to determine the frequency of metabolic syndrome in patients with DMD and to investigate factors associated with this outcome. For this to be done, data will be obtained from medical records or outpatient consultations, as well as through laboratory tests. We will use the operational definition of metabolic syndrome in children and adolescents. Next, we will make comparisons between patients with and without the referred syndrome, exploring genetic (mutation type), demographic (disease duration, age) and clinical variables (functional status, steroid use). Statistical analysis will be done through group comparison tests (both continuous and categorical variables) chosen according to the sample profile.