Progress in treatment of Charcot-Marie-Tooth disease

Abstract

Charcot-Marie-Tooth disease (CMT) comprises a group of monogenic inherited peripheral neuropathies with highly clinical and genetic heterogeneity, more than 80 causative genes have been cloned at present. Usually starts in childhood or juvinile period, the main clinical manifestations include progressive length.dependent muscle weakness and atrophy, sensory loss, areflexia and pes cavus. Although there is no specific treatment to reverse the natural disease course of CMT, symptomatic treatments such as rehabilitation, orthopedic surgery and medication can improve the overall fitness and life quality of CMT patients. Targeted treatments based on pathogenesis study is expected to provide precise therapy for CMT patients. This paper aims to make a review of the clinical application of symptomatic treatments and progress of target therapy researches in different CMT subtypes.

DOI: 10.3969/j.issn.1672-6731.2017.08.003