Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease)

Hereditary motor and sensory neuropathy (Charcot–Marie–Tooth disease)

Definition

Peroneal muscular atrophy or Charcot–Marie–Tooth Disease is a degenerative disorder of the peripheral nerves, motor nerve roots and spinal cord.

Aetiology

Inherited condition in which both autosomal dominant and recessive and X-linked patterns are seen.

Pathophysiology

Various forms are recognised including the following:

HMSN type I is a demyelinating neuropathy with dominant inheritance.

HMSN type II is an axonal neuropathy with variable inheritance pattern.

HMSN type III is an autosomal recessive demyelinating sensory neuropathy with very high CSF protein levels.

Clinical features

Syndrome in which there is distal limb wasting and weakness that slowly progresses over many years with variable loss of sensation and reflexes.

The typical deformities are pes cavus, peroneal wasting, and claw hand.

In severe cases the wasting begins in early childhood and results in complete disability with legs resembling ‘inverted champagne bottles’.

Mild cases present in adolescence or middle age usually with pes cavus.

Management

Custom shoes, foot orthoses or leg braces may improve gait. Corrective orthopedic foot surgery may help maintain mobility. Splinting, exercise, physiotherapy and surgery can help maintain hand function.