Interpretación de pruebas genéticas y biomarcadores en la distrofia muscular de Duchenne

Manuel Huertas-Quiñones, Fernando Suárez-Obando, Norma Carolina Barajas-Viracachá, Paulo César Becerra-Ortiz, Edna Julieth Bobadilla-Quesada, Carlos Ernesto Bolaños-Almeida, José Manuel Cañón-Zambrano, Sandra Milena Castellar-Leones, Jenny Libeth Jurado-Hernández, Juan David Lasprilla-Tovar, Nicolás J. Laza-Gutiérrez, Isabel C. Londoño Ossa, Blair Ortiz-Giraldo, Fernando Ortiz-Corredor, Sandra Janeth Ospina-Lagos, Juan Carlos Prieto, Carolina Rivera-Nieto, Edicson Ruiz-Ospina, Felipe Ruiz-Botero, María Claudia Salcedo-MaldonadoDiana Pilar Soto-Peña, Lina Marcela Tavera-Saldaña, María Julia Torres-Nieto, Diana Carolina Sánchez-Peñarete

Producción: Contribución a una revistaArtículorevisión exhaustiva

Resumen

Among the main characteristics of Duchenne muscular dystrophy (dmd) are the damage of muscle fibers during contraction, subsequent chronic muscle damage, inflammation, and subsequent replacement of muscle fibers by fibrous tissue. Biomarkers of the disease can reflect these types of alterations. Biomarkers in dmd are helpful for diagnosis, follow-up, and evaluation of the response to treatment. The indication for requesting different biomarkers varies according to the age and natural history of the disease, and their correct use allows for an adequate therapeutic approach, correct follow-up, and successful rehabilitation. The present review describes the different types of biomarkers and diagnostic methods used in patients with dmd and recommends their appropriate use according to their age and natural history of the disease.

Título traducido de la contribuciónInterpretation of Genetic Tests and Biomarkers in Duchenne Muscular Dystrophy
Idioma originalEspañol
PublicaciónRevista Ciencias de la Salud
Volumen23
DOI
EstadoPublicada - 22 abr. 2025

Palabras clave

  • Duchenne muscular dystrophy
  • biomarkers
  • genetic testing

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