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

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Maritza Muñoz Rivas
Sandra Milena Castellar Leones
Edicson Ruiz Ospina
Diego M. Chaustre Ruiz
Rogelio Camacho Echeverri
Maria Eugenia Miño Arango
Blanca Doris Rodríguez
Lina Marcela Tavera Saldaña
Pilar Guerrero
Martha Piñeros
Dagoberto Cabrera Hemer
Juan Carlos Prieto
Asid Rodríguez
Martha Gómez
Carolina Rivera
Marcela Galvez
Gustavo Contreras García
Sandra Ospina
Lina Mora
Lina Moreno
José María Satizábal Soto
Diana Pilar Soto Peña
Manuel Huertas Quiñoñes
Jenny Jurado
Sergio Nossa
Ximena Palacios
Pilar Guarnizo
Luz Helena Castaño
Mary Garcia

Resumen

La distrofia muscular de Duchenne (DMD) es la miopatía más común en niños, de herencia recesiva ligada al cromosoma X y causada por mutaciones en el gen DMD (Xp21.2). Se caracteriza por atrofia y debilidad muscular progresiva, con consecuentes complicaciones musculoesqueléticas, respiratorias y cardíacas, entre otras. Considerando la alta prevalenciade esta condición (prevalencia mundial 0.5 por cada 10 000 hombres) (1,2) y la importancia del manejo multidisciplinar para el diagnóstico oportuno y el manejo adecuado de los pacientes, se realiza un consenso interdisciplinario de expertos para proponer recomendaciones para el diagnóstico y seguimiento de los pacientes colombianos con DMD

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Muñoz Rivas, M. ., Castellar Leones, S. M. ., Ruiz Ospina, E. ., Chaustre Ruiz, D. M. ., Camacho Echeverri, R. ., Miño Arango, M. E. ., Rodríguez, B. D., Tavera Saldaña, L. M., Guerrero, P., Piñeros, M., Cabrera Hemer, D. ., Prieto, J. C. ., Rodríguez, A., Gómez, M., Rivera, C., Galvez, M., Contreras García, G. ., Ospina, S., Mora, L., Moreno, L., Satizábal Soto, J. M. ., Soto Peña, D. P. ., Huertas Quiñoñes, M. ., Jurado, J., Nossa, S., Palacios, X., Guarnizo, P., Castaño, L. H., & Garcia, M. (2020). Consenso colombiano para el seguimiento de pacientes con Distrofia muscular de Duchenne. Pediatría, 52(3), 75-84. https://doi.org/10.14295/p.v52i3.153
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