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Intervenciones para la distrofia muscular: medicamentos moleculares que entran en la clínica
Kate Bushby1, Hanns Lochmüller, Stephen Lynn
1Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK. kate.bushby@ncl.ac.uk
Lancet (London, England)
|December 1, 2009
Resumen
Las distrofias musculares son trastornos genéticos raros que causan discapacidad crónica. Si bien las terapias definitivas están pendientes, los avances en el diagnóstico y el manejo ofrecen una mejor atención para las personas afectadas.
Área de la Ciencia:
- Genética La genética.
- Neurología Neurología.
- Enfermedades raras Las enfermedades raras son enfermedades raras.
Sus antecedentes:
- Las distrofias musculares (MD) son un grupo de trastornos neuromusculares raros y hereditarios.
- Se han identificado más de 30 subtipos genéticos distintos de MD.
- Estas condiciones conducen a la debilidad muscular progresiva y la degeneración, afectando a niños y adultos.
Objetivo del estudio:
- Revisar los avances recientes en el diagnóstico y manejo de las distrofias musculares.
- Para resaltar la búsqueda en curso de terapias definitivas basadas en la patogénesis.
- Para discutir las estrategias terapéuticas emergentes actualmente bajo investigación.
Principales métodos:
- Revisión de las clasificaciones genéticas y mejoras en el diagnóstico en MD.
- Análisis de las estrategias actuales de gestión médica.
- Encuesta de ensayos terapéuticos preclínicos y clínicos para varios tipos de MD.
Principales resultados:
- Progreso significativo en la definición de los subtipos genéticos de la MD en las últimas dos décadas.
- Mayor precisión en el diagnóstico, el asesoramiento genético y el manejo clínico.
- Se está desarrollando una amplia gama de terapias potenciales, incluidos enfoques basados en genes y células.
Conclusiones:
- A pesar de la ausencia de curas definitivas, se han logrado mejoras sustanciales en la atención de MD.
- La investigación en curso sobre los mecanismos de la enfermedad alimenta el desarrollo de nuevos objetivos terapéuticos.
- La medicina personalizada, la modulación de vías, la terapia génica y la terapia celular representan direcciones futuras prometedoras para el tratamiento de la MD.
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