Consenso colombiano para el seguimiento de pacientes con Distrofia muscular de Duchenne

Pediatría Pub Date : 2020-01-14 DOI:10.14295/P.V52I3.153

Maritza Muñoz Rivas, Sandra Milena Castellar Leones, Edicson Ruiz Ospina, D. M. Chaustre Ruíz, Rogelio Eduardo Camacho Echeverri, Maria Eugenia Miño Arango, B. D. Rodríguez, Lina Marcela Tavera Saldaña, Pilar Guerrero, M. Piñeros, Dagoberto Nicanor Cabrera Hémer, J. Prieto, Asid Rodríguez, M. Gómez, C. Rivera, Marcela Gálvez, Gustavo Adolfo Contreras García, Sandra Marcela López Ospina, Lina Mora, L. J. Moreno, Jose Maria Satizabal Soto, Diana Pilar Soto Peña, Manuel Huertas Quiñoñes, Jenny Jurado, Sergio Nossa, Ximena Palacios, Pilar Guarnizo, Luz Helena Castaño, Mary García

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引用次数: 2

Abstract

Duchenne muscular dystrophy (DMD) is the most common myopathy in children, X-linked recessive disease, caused by mutations in the DMD gene (Xp21.2). It is characterized by progressive muscular atrophy and weakness, with consequent musculoskeletal, respiratory and cardiac complications, among others. Considering the high prevalence of this condition (Worldwide prevalence 0.5 per 10,000 men) (1,2) and the importance of multidisciplinary management for the timely diagnosis and proper management of patients, an interdisciplinary consensus of experts is made to propose recommendations for the diagnosis and follow up of Colombian patients with DMD.

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哥伦比亚对杜兴肌营养不良患者随访的共识

杜氏肌营养不良症(DMD)是儿童中最常见的肌病，是一种由DMD基因(Xp21.2)突变引起的x连锁隐性疾病。它的特点是进行性肌肉萎缩和无力，随之而来的肌肉骨骼、呼吸和心脏并发症等。考虑到这种疾病的高患病率(世界范围内每10,000名男性患病率为0.5)(1,2)以及多学科管理对患者及时诊断和适当管理的重要性，专家们达成跨学科共识，为哥伦比亚DMD患者的诊断和随访提出建议。

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Pediatría

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