A look at Charcot-Marie-Tooth disease
Keywords:
Charcot-Marie- Tooth disease, peripheral neuropathies, molecular diagnostic, genetic counselingAbstract
Charcot-Marie-Tooth disease (CMT) is a group of common inherited neuropathies that affects
the peripheral nervous system. The CMT has an important place among peripheral neuropa-
thies, it is the most frequent in the world and its prevalence has been estimated in 1-2,500
people. The transmission of this neuropathy can be autosomal dominant, autosomal recessive
or chromosome X-linked types. The CMT classification is performed on the basis of clinical
criteria, electrophysiological, anatomopathological and genetic characteristics. A clinical vari-
ability and genetic heterogeneity is shown by the distinct CMT subtypes. The knowledge about
the CMT pathogenesis has increased in the last years and, with the improvement in techniques
of molecular biology, the discovery of more than 30 genes and loci associated to CMT has
been possible. Given the hereditary nature of this neuropathy, correct diagnosis is of pivotal
importance in order to give patients a suitable genetic counseling. Remarkably, novel animal
models recently developed, reproducing clinical and genetic features of CMT, can be useful
to create new therapies for the treatment of this disease, which unfortunately has no cure.
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