Distrofia muscular de Duchenne. Perspectivas desde la rehabilitación

  • Diego M. Chaustre R. Universidad Militar Nueva Granada
  • Willington Chona S. Universidad Militar Nueva Granada
Palabras clave: distrofia muscular de Duchenne, distrofina, rehabilitación

Resumen

La Distrofia Muscular de Duchenne (DMD) es una enfermedad hereditaria de tipo neuromuscular progresiva, que se presenta durante la infancia; afecta aproximadamente 1 de cada 3500 a 6000 niños varones nacidos vivos. El gen DMD que codifica para la distrofina, una proteína estructural del músculo, se localiza en el brazo corto del cromosoma X en la región p21, puede sufrir diferentes mutaciones ocasionando la pérdida parcial o total de la proteína lo que origina la DMD y otras enfermedades relacionadas como la Distrofia Muscular de Becker, que es una distrofia de forma más leve. Esta es una enfermedad discapacitante que se caracteriza por un deterioro progresivo de los músculos, y en las etapas avanzadas de la enfermedad se presentan generalmente complicaciones cardiorespiratorias que son las causas principales que ocasionan la muerte al paciente. Desde el punto de vista de la rehabilitación, cuyo objetivo es retrasar la progresión de la enfermedad, se han venido desarrollado una serie de estrategias de tratamiento y manejo que involucran grupos multidisciplinarios; éstas van desde trabajo en gimnasio con terapeutas para estiramientos hasta prescripción de sillas de ruedas y formulación de ventilación mecánica no invasiva, que si bien se sabe no modifican las bases genéticas de la enfermedad, sí mejoran de forma importante la independencia del paciente, facilitan los cuidados por parte de la familia y los cuidadores y permiten una mejor calidad de vida.

Biografía del autor/a

Diego M. Chaustre R., Universidad Militar Nueva Granada
Residente Programa de Medicina Física y Rehabilitación, Facultad de Medicina, Universidad Militar Nueva Granada, Bogotá, Colombia
Willington Chona S., Universidad Militar Nueva Granada
Residente Programa de Medicina Física y Rehabilitación, Facultad de Medicina, Universidad Militar Nueva Granada, Bogotá, Colombia

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Biografía del autor/a

Diego M. Chaustre R., Universidad Militar Nueva Granada
Residente Programa de Medicina Física y Rehabilitación, Facultad de Medicina, Universidad Militar Nueva Granada, Bogotá, Colombia
Willington Chona S., Universidad Militar Nueva Granada
Residente Programa de Medicina Física y Rehabilitación, Facultad de Medicina, Universidad Militar Nueva Granada, Bogotá, Colombia

Citas

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Cómo citar
Chaustre R., D. M., & Chona S., W. (2011). Distrofia muscular de Duchenne. Perspectivas desde la rehabilitación. Revista Med, 19(1), 45-55. https://doi.org/10.18359/rmed.1214
Publicado
2011-06-30
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