C harcot-Marie-Tooth disease (CMT) is the most common inherited childhood neuromuscular disorder (Jani-Acsadi et al., 2015). Two main types of CMT have been identified: a demyelinating form resulting from defects in the Schwann cells, causing slowed nerve conduction, and an axonal form, which presents due to abnormalities within the axon itself or its interface with Schwann cells, with normal to only slightly decreased nerve conduction speeds (Jani-Acsadi et al., 2015). The number of identified disease phenotypes continues to increase with ongoing and expanded genetic testing.
ETIOLOGYGenetic testing has provided physicians a more accurate identification of the disease phenotype. Over 80 types of genes have been recognized as contributing to CMT (Jani-Acsadi et al., 2015;Pareyson et al., 2017). Although there are many genes implicated in the pathology of CMT, over 90% of CMT diagnoses have genetic mutations associated with peripheral myelin protein 22 gene (PMP22), gap junction B1 gene (GJB1), major peripheral myelin protein gene (MPZ), and either mitofusin 2 (MFN2) or ganglioside-induced differentiationassociated protein 1 (GDAP1; Pareyson et al., 2017).CMT1 is the most prevalent type of the disease and is characterized by demyelination and slowed motor and sensory nerve conduction velocities (Jani-Acsadi et al., 2015). This type of CMT can be categorized further by its associated gene.