Charcot-Marie-Tooth disease (CMT) and related neuropathies represent a heterogeneous group of hereditary disorders, with over 90 associated genes, many uncovered in the last few years thanks to next-generation sequencing technology.
Primary myelin involvement is commonly the basis of the so-called demyelinating CMT which represents up to two thirds of all CMT cases, by including autosomal dominant CMT1 and autosomal recessive CMT4 types. Indeed, there is a continuum between CMT1/4 and the primary axonal CMT2 which is filled by the “Intermediate CMT types”, the main type being the X-linked CMTX1. Hereditary Neuropathy with liability to Pressure Palsies (HNPP) completes the list of the main forms. Their clinical presentation, diagnostic pathways, differential diagnosis, associated genes, pathomechanisms, and management will be reviewed and clinical cases will be presented. Several promising compounds are under investigation in cellular and animal models and novel clinical trials are starting or close to begin. Research is also focused on finding responsive outcome measures and biomarkers. The most recent advances in the field will be discussed.
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