Charcot–Marie–Tooth disease

Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people. It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940), and the Briton Howard Henry Tooth (1856–1925).

For other diseases, see Charcot disease (disambiguation).
Charcot–Marie–Tooth disease
Other namesCharcot–Marie–Tooth neuropathy, peroneal muscular atrophy, Dejerine-Sottas syndrome
The foot of a person with Charcot–Marie–Tooth disease: The lack of muscle, a high arch, and claw toes are signs of this genetic disease.
Pronunciation
  • [ʃaʁko maʁi tuːθ]
SpecialtyNeurology, podiatry, orthopedics, physical medicine and rehabilitation
SymptomsFoot drop, hammertoe, peripheral muscle wasting of lower legs and lower arm/hands
Usual onsetChildhood – early adulthood
DurationLifelong
CausesFamily history (genetics)
Risk factorsFamily history (genetics), high-arched feet, flat-arched feet
Diagnostic methodGenetic testing, nerve conduction study or electromyogram (EMG)
Differential diagnosisMuscular dystrophy
TreatmentManagement to maintain function
PrognosisProgressive
FrequencyPrevalence: 1 in 2,500

There is no known cure. Care focuses on maintaining function. CMT was previously classified as a subtype of muscular dystrophy.

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