The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study

Charcot-Marie-Tooth disease (CMT) is the most frequent inherited neuromuscular disorder and encompasses heterogeneous motor-sensory length-dependent polyneuropathies. CMT manifests commonly in the first-second decade with moderate functional involvement and slow evolution. Variations in age of onset, from early infancy to late adulthood, and degree of severity, from an asymptomatic neuropathy to loss of the ambulatory autonomy, are not necessarily linked to specific genotypes. Clinical phenotypes, mode of inheritance and nerve conduction study (NCS) still address genetic tests in the Next-Generation Sequencing era (Rossor et al., 2016).

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