Clinical features

There are two clinically distinct types of Charcot-Marie-Tooth disease:

• type I:
  • a demyelinating sensorimotor neuropathy
  • early onset, typically in the first decade
  • presentation with walking difficulties and pes cavus
  • associated deformities include eqinovarus foot and kyphoscoliosis
  • wasting occurs:
    • distally before proximally
    • in the legs before the arms
  • distal wasting may produce the classical inverted champagne bottle deformity
• there is generalised areflexia
  • there may be cerebellar ataxia of the arms
  • respiratory muscles may be weak
  • nerve conduction is slowed to less than 38 m/sec
  • peripheral nerves may be palpably thickened
    
    
• type II:
  • an axonal sensorimotor neuropathy
  • later onset, in the second decade or later
  • weakness and wasting are less marked
  • usually there is areflexia in the legs only
  • structural deformities are less common
  • nerve conduction is slow but always more than 38 m/sec
  • there is no palpable thickening of peripheral nerves