Identifying and managing Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy (PMA), is a collection of related disorders, and is classified as a form of muscular dystrophy (Carter et al, 2008). However, unlike muscular dystrophy in which the defect occurs within muscle tissue, in CMT the defect affects the peripheral nerves that control the muscles (Jani-Ascadi et al, 2008) (Figure 1). Disorders that affect the peripheral nerves are called peripheral neuropathies. The disease takes its name from the three clinicians attributed to its discovery, namely Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth (Carter et al, 2008).