Enfermedad de Charcot-Marie-Tooth

Abstract

La enfermedad de Charcot-Marie-Tooth (CMT) es la polineuropatía hereditaria sensitiva y motora más prevalente, que se caracteriza por una enorme heterogeneidad genética y clínica. Su prevalencia en Cantabria es de 28 casos por 100.000 habitanntes. Se han descrito patrones de herencia autosómica, tanto dominante como recesiva, así como estirpes con herencia ligada al sexo. El estudio neurofisiológico permite distinguir tres subtipos: desmielinizante (velocidad de conducción motora [VCM] en nervio mediano < 38 m/s), axonal (VCM > 38 m/s) e intermedia (VCM entre 30 y 40 m/s). En la actualidad se han clonado 60 genes patogénicos, lo cual constituye la base molecular del 70% de las estirpes. Con la introducción de las técnicas de secuenciación de alto rendimiento se estima que en un futuro próximo se identificará la totalidad de los genes patogénicos. Este trabajo de revisión pretende recapitular los aspectos más importantes de esta entidad incluyendo la etiopatogenia, semiología, diagnóstico y tratamiento, centrándose en CMT1A, por ser el genotipo más frecuente

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy, which involves both motor and sensory fibres of the peripheral nervous system. The prevalence en Cantabria is 28 cases per 100,000 inhabitants. It is a highly heterogeneous syndrome that may be transmitted with autosomal dominant, autosomal reccesive or X-linked patterns. Based upon electrophysiology, three subtypes have been identified: demyelinating (motor conduction velocity [MCV] inmedian nerve< 38 m/s), axonal (MCV> 38 m/s) and intermediate (MCV between 30 and 40 m/s). There have been cloned 60 pathogenic genes representing around 70% of all families. With the introduction of next-generation sequencing, it is estimated that in the near future all pathogenic genes will be identified. In this paper, I focus on the nosology of CMT1A given that it is the most frequent phenotype.

ABSTRACT: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy, which involves both motor and sensory fibres of the peripheral nervous system. The prevalence en Cantabria is 28 cases per 100,000 inhabitants. It is a highly heterogeneous syndrome that may be transmitted with autosomal dominant, autosomal reccesive or X-linked patterns. Based upon electrophysiology, three subtypes have been identified: demyelinating (motor conduction velocity [MCV] inmedian nerve< 38 m/s), axonal (MCV> 38 m/s) and intermediate (MCV between 30 and 40 m/s). There have been cloned 60 pathogenic genes representing around 70% of all families. With the introduction of next-generation sequencing, it is estimated that in the near future all pathogenic genes will be identified. In this paper, I focus on the nosology of CMT1A given that it is the most frequent phenotype.