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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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

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