Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of neuromuscular disorders characterized by slow progressive atrophy; wasting and weakness of the distal limb muscles; sensory loss in the feet, lower legs, and hands; skeletal deformities and reduced tendon reflexes. The disease was named after three physicians who simultaneously commented on the characteristics in 1886, Howard Henry Tooth of England and Jean Martin Charcot and Pierre Marie from France. Individuals with CMT have difficulty walking and often fall and sprain their ankles. This is often the result of leg weakness. Hand weakness often results in problems with fine motor control, causing difficulty in writing, buttoning clothes, and manipulating small objects. Tendon atrophy further causes problems with foot drop and exaggerated leg lifting (i.e., to clear the ground). Pain is uncommon, but loss of sensation is frequently reported.
A form of progressive neural atrophy of muscles supplied by the peroneal nerves. There are numerous variants of the disease: some are transmitted on the X chromosome and some are autosomal recessive. In all versions, there is a defect in the myelination of peripheral nerves, causing motor deficits (such as foot drop) and loss of sensation.