Charcot Marie Tooth Disease

Abstract 

Charcot Marie Tooth (CMT) disease was first described in 1886. It describes a spectrum of genetic disorders that affects peripheral nerves, either by slowing action potential transmission along the axons, or by reducing the amplitude, or both.

It is this variety of underlying genetic findings and subtleties of clinical presentation that has resulted in the varying nomenclature over the years. Patients with CMT commonly present to orthopaedic surgeons with lower and upper limb symptoms including ankle sprains, cavus feet and weakness of the intrinsic hand muscles. More rarely, they present with spinal and hip manifestations. It is not usually a life threatening or painful condition and therefore lends itself to the FRCS (Tr & Orth) exam.

Keywords: Charcot Marie Tooth (CMT), Hereditary Motor Sensory Neuropathy (HMSN)