Charcot-Marie-Tooth Disease

Excerpt

Inherited peripheral neuropathies are a group of disorders that include the hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN) or hereditary sensory, and autonomic neuropathies (HSAN). The commonest entity, HMSN is also known as Charcot-Marie-Tooth disease (CMT).

This entity was first described in 1886 by Jean Marie Charcot and Pierre Marie from France and Howard Henry Tooth from England. Subsequently, Hoffman described thickened nerves in a patient of ‘peroneal muscular atrophy’. The CMTs are heterogeneous in clinical, electrophysiological, genetic, and pathological features. However, the majority of these patients manifest in the first or second decade with insidious onset and slowly progressive weakness that starts in lower extremities and later involves upper extremities.