Duchenne Muscular Dystrophy: Case Reports
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Keywords

dystrophin, inheritance patterns, electromyography, prednisone.

How to Cite

Duchenne Muscular Dystrophy: Case Reports. (2017). Universitas Medica, 58(4). https://doi.org/10.11144/Javeriana.umed58-4.duch
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Abstract

The Duchenne muscular dystrophy is a bound serious muscular illness to the X-linked chromosome that affects to the gene that codes the dystrophin, protein important for the maintenance of the muscle fiber. It is characterized by muscle weakness of beginning in the childhood that follows a progressive course. Without intervention some, the patients lose the march before the younger and the death happens in the second decade of life for breathing complications or heart problems. At the moment it doesn't exist healing treatment, but the therapy with corticosteroids and the handling several disciplines and orthopedic they modify the natural history of this muscle disorders. In this article, we present two clinical cases of children who had difficulty prefoming vigorous physical actives. Diagnosis of Duchenne muscular dystrophy confirmed by creatin phosphokinase and electromyography with improvement of the clinical picture thanks to the treatment provided

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Camacho A. Distrofia muscular de Duchenne. An Pediatric Contin. 2014;12(2):47-54.

Online Mendelian Inheritance in Man (OMIM) [internet]. 2015 [citado 2015 mar]. Disponible en: http://www.ncbi.nlm.nih.gov/Omim/

Turnpenny P, Ellard S. Emery´s elements of medical genetics. 13a ed. Edimburgo: Elsevier Limited; 2007.

Biggar D. Duchenne muscular dystrophy. Peds in Review. 2015;27(3):83-8.

Lyons K. SMITH: patrones reconocibles de malformaciones humanas. 6a ed. Barcelona: Elsevier Saunders; 2008.

Mercier S, Toutain A, Toussaint A, Raynawd M, Barace C, Marcorelles P, et al. Genetic and clinical specifity of 26 symptomatic carriers for dystrophino pathies at pediatric age. Europ J H Gent. 2013;21(1):855-63.

Coral R, López L, Ruano L, Gómez B, Fernández F, Bahena E. Distrofias musculares en México: un enfoque clínico, bioquímico y molecular. Rev de Esp Med-Quirur (México). 2014;15(3):152-60.

Kleinsteuber K, Avaria M. Enfermedades neuromusculares en pediatría. Rev Ped Elec. 2013;2(1);52-61.

Cammarata F, Camacho N, Alvarado J, Lacruz M. Distrofia muscular de Duchenne: presentación clínica. Rev Chil Pediatric. 2013;79(5):495-501.

Chaustre D, Chona W. Distrofia muscular de Duchenne: perspectivas de Rehabilitación. Rev Med. 2011;19(1):44-55.

Dietz H, Feero W, Guttmacher A. New therapeutic approaches to Mendelian disorders. N Engl J Med. 2012;363(9):852-63.

Bushby K, Finkel R, Birnkrant D, Laura E, Clemens P, Cripe L, et al. Diagnóstico y tratamiento de la distrofia muscular de Duchenne. Lancet Neurol. 2014;9(1):77-93.

Lantigua A. Introducción a la genética médica. 2a ed. La Habana: Ciencias Médicas; 2011.

Fonseca D, Arbeláez H, Silva C. Pérdida de heterocigocidad e identificación de portadores de distrofia muscular de Duchenne: un caso familiar con evento de recombinación. Rev Cienc Salud. 2012;10(1):83-90.

Ministerio de Salud Pública de Ecuador. Manual de prevención de riesgos de discapacidad en perineonatología. Quito: MSP; 2014.

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