SVOA Neurology

Andjela Gavrilovic^1* and Nenad Komatina¹

¹Worldwide Clinical Trials, Serbia *Corresponding Author: Andjela Gavrilovic, Worldwide Clinical Trials, Serbia, Phone: +381114429034

Received: August 25, 2022     Published: September 19, 2022

Abstract

Charcot–Marie–Tooth (CMT) disease is the most common degenerative disorder of the peripheral nervous system (PNS) and among the most common inherited neurological disorders. Currently incurable, CMT represents a group of inherited neuropathies, with diverse underlying genetic mechanisms, from point mutations to copy number variation and allelic heterogeneity, age-dependent penetrance, and variable expressivity. Typical phenotype is presented by chronic sensorymotor neuropathy, causing significant and slowly progressive disability with normal life expectancy. Rare infants develop severe congenital disabilities whereas some patients have few if any disease-related health issues. Over the past three decades over fifty genes carrying causative CMT mutations have been identified and a wide range of therapeutics have been proposed following two approaches: disease-specific (targeted to each CMT form unique mechanism) and common approach (targeted to pathways shared by several or all CMT types), including gene silencing, gene replacement therapies, and small molecule treatments. Although CMT is still incurable, potentially curative treatments are investigated currently like in the ongoing PXT3003 trial.

Keywords: Charcot Marie Tooth disease, peripheral nervous system, neuropathy, nerve conduction studies, inheritance, clinical presentation

Citation: Gavrilovic A, Komatina N. “Charcot-Marie-Tooth Disease – Clinician’s Perspective Overview”. SVOA Neurology 2022, 3:5, 199-207.