Charcot-Marie-Tooth Disease


  • CMT Disease is part of a larger spectrum of inherited diseases affecting the peripheral nerves
  • Most common inherited disorder of peripheral nerves
  • Usually inherited in an autosomal dominant fashion (consecutive generations affected) though some cases are X-linked recessive
  • Normally presents in childhood/early adulthood with foot deformities or gait disturbances
  • Slowly progressive disease that results in weakness and atrophy beginning in the legs.
  • Sensory loss is common

Symptoms and Signs

  • Onset in late childhood or adolescense though Type 2 may present in middle-aged
  • Foot deformities- pes cavus with hammer toes
  • Foot drop from lower extremity weakness
  • Frequently sprained ankles, difficulty running, slapping of the feet
  • Progressive lower and upper extremity weakness
  • Progressive sensory loss
  • Difficulty walking is the main disability


  • Type 1- 1st decade of life
  • Type 2- 2nd decade of life
  • Prevalence of 1 in 2,500





  • No known treatment though NSAIDS (Ibuprofen), anticonvulsants and antidepressants are used to help control pain
  • Bracing and attempting to minimize the disability are the main focus of treatment options



  • Normal life expectancy
  • Difficult to predict disability even among siblings


Differential Diagnosis

  • HMSN non-type 1,2