Charcot-Marie-Tooth (CMT)

Charcot-Marie-Tooth disease (CMT) is an inherited disorder of progressive peripheral nerve dysfunction resulting in numbness and weakness. The first description of distal muscle weakness and wasting beginning in the legs was published by Jean Martin Charcot and Pierre Marie under the name of peroneal muscular atrophy in 1886. The same disease was described by Howard Henry Tooth in his Cambridge dissertation in 1886 under the name of peroneal progressive muscular atrophy. Tooth was the first to correctly attribute the symptoms to neuropathy, rather than myelopathy (spinal cord disease) as was previously believed. They Marinesco identified the presence of foot deformity and the familial nature of the disease, but incorrectly suggested that anterior horn cells may also be involved in the disease process.

The early designation of peroneal muscular atrophy later gave way to Charcot-Marie-Tooth disease. More recent nomenclature designated CMT as Hereditary Motor and Sensory Neuropathy type I (HMSN-I). Recent advances in genetic research have identified several types of CMT, which correspond with specific genetic mutations (see Genetics below).