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Instituto Nacional de Neurología y Neurocirugía

2012, Número 2

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Arch Neurocien 2012; 17 (2)


Enfermedad de Charcot-Marie-Tooth: actualidad y perspectivas

Lara-Aguilar RA,Juárez-Vázquez CI, Juárez-Rendón KJ, Gutiérrez-Amavizca BE, Barros-Núñez P

Idioma: Español
Referencias bibliográficas: 57
Paginas: 110-118
Archivo PDF: 121.82 Kb.


RESUMEN

La enfermedad de Charcot-Marie-Tooth se define como una polineuropatía sensitivo-motora de tipo desmielinizante o axonal, que presenta heterogeneidad genética y clínica, está asociada con mutaciones en más de 30 genes distintos. Objetivos: actualizar el panorama clínico de esta enfermedad, así como los avances moleculares y terapéuticos que contribuyen a comprender mejor esta heterogénea entidad. Desarrollo: Charcot-Marie-Tooth es un padecimiento que representa una de las neuropatías hereditarias mixtas más comunes, con una incidencia de 1 por cada 2,500 nacidos vivos. El espectro clínico es amplio y no hay una correlación genotipo-fenotipo establecida; sin embargo, algunas características clínico-electrofisiológicas permiten clasificar este padecimiento. Típicamente el paciente cursa con atrofia y debilidad muscular distal, asociada a pérdida sensorial que va desde leve a moderada así como hiporreflexia. Conclusiones: la clasificación clínica de la enfermedad es cada vez más extensa y compleja debido a que constantemente se detectan nuevas mutaciones causando este padecimiento, lo que permite por un lado aclarar la genética de ciertas variantes de CMT raras y por otro aumentar la información en las variantes clásicas. Además, la heterogeneidad clínica mostrada en esta enfermedad parece coincidir con la participación de los distintos genes descubiertos y que en conjunto contribuyen a mantener la función y estructura del nervio periférico, por lo que se vuelve un importante blanco de investigación para el desarrollo de nuevos y mejores tratamientos.


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