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Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

CAMMARATA-SCALISI, FRANCISCO; CAMACHO, NOLIS; ALVARADO, JORGE  y  LACRUZ-RENGEL, MARÍA ANGELINA. Duchenne Muscular Dystrophy clinical presentation. Rev. chil. pediatr. [online]. 2008, vol.79, n.5, pp. 495-501. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062008000500007.

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 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.

Palabras clave : Duchenne Muscular Dystrophy; X-link; recessive; dystrophin.

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