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Charcot-Marie-Tooth Disease

In This Article

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.
 

Presentation

  • 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.
 
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Pathology

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).
 
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Management

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)

- See more at: http://almostadoctor.co.uk/content/systems/neurology-psychiatry/neurology/charcot-marie-tooth-disease#sthash.LiuMTcFD.dpuf