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- W4383503971 abstract "Introduction: Duchenne muscular dystrophy (DMD) is the most frequent muscle dystrophy in children. It is an X-linked condition caused by loss of function variants in the DMD gene. During disease course, affected patients lose lean body mass, become severely motor disabled and are often treated with long term steroids. All these factors pose them at increased risk for developing metabolic syndrome (MS), even as children. Surprisingly, there are few studies addressing this aspect in DMD cohorts, particularly in Brazil. Objectives: To estimate the frequency and risk factors for DMD-related MS in a Brazilian cohort. Methods: This is a cross-sectional study involving 33 patients with DMD regularly followed at Universidade Estadual de Campinas. All subjects underwent detailed clinical (blood pressure, body mass index, motor function) and laboratorial (serum glucose, glycated hemoglobin (HbA1c), cholesterol and triglyceride levels) evaluation. We also recorded demographic, genetic and steroid use (cumulative dose) data from each subject. MS was defined according to the international federation of diabetes criteria for children/teenagers. Results: Mean age of patients was 10.54 years and there were 60% of wheelchair bound. Most of them had either deletions (n = 15) or duplications (n = 6). None of the patients fulfilled the entire set of criteria for MS. However, particular clinical features of the syndrome were frequently found: Obesity in 60%, Central obesity in 70.36% and increased blood pressure in 21.7%. Glucose and Hb1Ac were normal in all individuals, but increased cholesterol and/or triglyceride levels were noticed in 33.33% of the patients. Conclusion: Metabolic abnormalities are frequent and should be actively investigated in DMD. The existing MS diagnostic criteria may not be adequate for these patients and contribute to underdiagnosis." @default.
- W4383503971 created "2023-07-08" @default.
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- W4383503971 date "2023-01-01" @default.
- W4383503971 modified "2023-10-03" @default.
- W4383503971 title "Metabolic syndrome in patients with Duchenne muscular dystrophy" @default.
- W4383503971 doi "https://doi.org/10.5327/1516-3180.141s1.512" @default.
- W4383503971 hasPublicationYear "2023" @default.
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