Charcot–Marie–Tooth Disease

Abstract

Charcot–Marie–Tooth (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus.The disease illustrates a multitude of genetic principles, including diverse mutational mechanisms from point mutations to copy number variation (CNV), allelic heterogeneity, age-dependent penetrance and variable expressivity.1 Clinical diagnosis is based on family history and characteristic findings on physical examination, EMG/NCV testing, and occasionally sural nerve biopsy. Molecular genetic testing is possible for some types of CMT.2