Duchenne Muscular Dystrophy clinical presentation

Background: Duchenne Muscular Dystrophy is an X-link recessive disorder that affects 1 per 3.500 males. Becker Muscular Dystrophy is less common, affecting approximately 1 per 30 000 males. Both diseases are the result of a mutation in the Xp21 gene that encodes for dystrophin. Objective: Describe the clinical manifestations of Duchenne Muscular Dystrophy in patients at our institution. Method: Observational and descriptive study, in which clinical records of 8 patients with Duchenne Muscular Dystrophy were reviewed, with description of their clinical aspects. Results: The mean age at diagnosis was 5 years-old. 6 boys presented developmental delay and 7 deambulation difficulties, being the main reason for medical attendance. 3 patients died during the study period. Conclusions: A multidisciplinary center dot management is required to delay the disease evolution, while it does not have a curative treatment. It is necessary to know the clinical aspects representative of this disease, in order to perform an early diagnosis.