Synonyms::
Peroneal muscular atrophy;
Charcot-Marie-Tooth disease;
Roussy-Levy syndrome;
Dejerine-Sottas disease

The inheritance is usually autosomal dominant, but recessive forms also occur.

The characteristic clinical features include distal wasting of the lower limb muscles (the so-called 'inverted champagne bottle' appearance). The feet show pes cavus and clawing of the toes, with weakness of the feet extensors. The ankle jerks are absent and the plantar reflexes show no response (occasionally they can be extensor).

Palpable nerve thickening is found in about 25% of cases and is specific for the demyelinating forms of HMSN. The patient may have a 'high stepping gait' due to bilateral foot drop. There may be wasting of the small muscles of the hand. In general, the presenting symptoms are due to difficulty walking or a foot deformity.

2 types:
-Demyelinating
-axonal
can be differentiated by EMG and Nerve conduction study

D/D for pes cavus

# HMSN
# Old polio infection
# Friederich's ataxia
# Spina bifida