Charcot-Marie-Tooth Disease

An inherited peripheral neuropathy. Various forms of inheritances, the most common is autosomal dominant. Can also be passed on in autosomal recessive and X-linked patterns. In rare instances it may be sporadic.

Sometimes called hereditary motor and sensory neuropathy (HMSN), or peroneal muscular atrophy.


  • Usually in puberty, can be between the ages of 10 and 30
  • Progressive distal muscle weakness and wasting
  • Foot drop / high stepping / foot slapping gait
  • Hammer toe – the toes are always curled
  • Variable loss of reflexes and other sensory signs
  • May progress to hands, arms and face later in the disease. Changes in the arms are similar to those seen in the legs, and occur later in the disease.
    • In some, the diaphragm may be affected, making breathing difficult
    • Rarely it may affect vision, hearing and balance
  • Pes cavus – an exaggerated arch of the foot – develops over time
  • Reduced mobility over time
  • Normal tone, but slight reduced power - although strength normally remains reasonable
  • Prevalence – 37 per 100 000 (roughly 1 in 2500)
  • Champagne bottle legs appearance – as the result of peroneal muscle wasting, the legs appear like inverted champagne bottles
  • Often disabling, but rarely causes total paralysis
  • May respond to surgery
  • Patients may have scars across the dorsum of the toes, and under the arch of the foot, where they have had corrective surgery for foot deformities.


The result of dysfunctional genes that code for proteins in the myelin sheath (Type I), or more rarely in the axonal mirochondria of the nerve fibre itself (Type II).


There is no cure, and there is very little treatment.
  • Patients advised to stay active, and do exercise
  • Hydrotherapy may help
  • Advised to keep weight low, to reduce the risk of mobility problems
  • Trails on the use of ascorbic acid (vit C) are underway to assess its efficacy
  • Genetic testing can reveal if children and relatives are at risk
  • Surgery can reduce deformity (e.g. of clawed toes and pes cavus)

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