Charcot Marie tooth disease

Abstract

Charcot-Marie-Tooth disease is a clinically heterogenous disorder with a prevalence of about 1 in every 2500. This disease is characterised by a progressive neuropathy which may present with a range of phenotypes. The classical phenotype of the disease generally includes distal muscular atrophy and skeletal deformities but varies with severity and age of onset. Electrophysiology is especially important for the current classification system of CMT, differentiating between CMT1, CMT2 and intermediate CMT subtypes. Over 60 causative genes have been identified for this disorder, owing to the advances that have been made in molecular techniques. Such techniques, especially Next-generation sequencing, have since revolutionised genetic testing and greatly expanded our knowledge of individual phenotypes and genotypes. Having said this, CMT is a continuously evolving field. In fact, although CMT is not associated with any particular treatment, clinical trials related to potential therapeutics are currently underway after presenting with positive outcomes in animal models. Although new techniques are being developed, diagnosis remains particularly focused on both the clinical and neurophysiological features, which in turn guides the application of Nextgeneration sequencing. Moreover, further research concerning epidemiology, as well as outcome measures is required to gain yet a better understanding of CMT and its subtypes, in hopes of developing specific treatment options and potentially even finding a cure so to subsequently improve the patients' quality of life.