Characterizing the variability of disease severity within and between types of Charcot-Marie-Tooth disease (CMT) is important to increase knowledge of genotype-phenotype associations and improve our understanding of the prognosis of this disorder. Charcot-Marie-Tooth disease is the most common inherited neuropathy, with an estimated prevalence of 1 in 2500.
1 Next-generation sequencing has resulted in a rapid expansion of gene discovery in CMT, with more than 80 genes identified and many more still to be discovered.
2 Charcot-Marie-Tooth disease is often characterized by distal weakness, foot deformity, sensory loss, areflexia, and difficulties with gait
2,3; however, the frequency of these disease manifestations and the variability within and between types of CMT are poorly understood. While the prevalence of each type of CMT is becoming clearer, less is known about the clinical characteristics of each of these genetic types in childhood.