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Explanation of names

Charcot-Marie-Tooth Disease / Peroneal Muscular Atrophy

In 1886, Professor Jean Martin Charcot of France (1825-1893) and his student Pierre Marie (1853-1940) published the first description of distal muscle weakness and wasting beginning in the legs, calling it peroneal muscular atrophy.

Howard Henry Tooth (1856-1926) described the same disease in his Cambridge dissertation in 1886, calling the condition peroneal progressive muscular atrophy. Tooth was the first to attribute symptoms correctly to neuropathy rather than to myelopathy, as physicians previously had done.

In 1912, Hoffman identified a case of peroneal muscular atrophy with thickened nerves. This disease was referred to as Hoffman disease and later was known as Charcot-Marie-Tooth-Hoffman disease.

In 1968, CMT was subdivided into 2 types, CMT 1 and CMT 2, based on pathologic and physiologic criteria. CMT has been subdivided further based upon the genetic cause of the disease (see Types).

The other commonly used name is

Hereditary Motor and Sensory Neuropathy (HMSN)

Hereditary – because it is passed from generation to generation

Motor and Sensory – because these are the two types of nerves which are affected

Neuropathy – which describes any condition where nerves are involved

All these names describe the same condition.

Date reviewed - 21/11/2011