Charcot-Marie-Tooth disease





Introduction

Charcot-Marie-Tooth Disease is the most common hereditary peripheral neuropathy. It results in a predominantly motor loss. There is no cure, and management is focused on physical and occupational therapy.

Epidemiology

  • Incidence: 0.40 cases per 100,000 person-years
  • Peak incidence: 6-15 years
  • Sex ratio: 1:1
<1 1-5 6+ 16+ 30+ 40+ 50+ 60+ 70+ 80+

Clinical features

Features:
  • There may be a history of frequently sprained ankles
  • Foot drop
  • High-arched feet (pes cavus)
  • Hammer toes
  • Distal muscle weakness
  • Distal muscle atrophy
  • Hyporeflexia
  • Stork leg deformity