clinical features
Last reviewed 10/2023
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