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
{"title":"哥伦比亚对杜兴肌营养不良患者随访的共识","authors":"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","doi":"10.14295/P.V52I3.153","DOIUrl":null,"url":null,"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.","PeriodicalId":101003,"journal":{"name":"Pediatría","volume":"34 1","pages":"75-84"},"PeriodicalIF":0.0000,"publicationDate":"2020-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Consenso colombiano para el seguimiento de pacientes con Distrofia muscular de Duchenne\",\"authors\":\"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\",\"doi\":\"10.14295/P.V52I3.153\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":101003,\"journal\":{\"name\":\"Pediatría\",\"volume\":\"34 1\",\"pages\":\"75-84\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-01-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatría\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14295/P.V52I3.153\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatría","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14295/P.V52I3.153","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Consenso colombiano para el seguimiento de pacientes con Distrofia muscular de Duchenne
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.