Charcot-Marie-Tooth Disease
Basics
- 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
Demographics
- Type 1- 1st decade of life
- Type 2- 2nd decade of life
- Prevalence of 1 in 2,500
Diagnosis
Treatment
- 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
Prognosis
- Normal life expectancy
- Difficult to predict disability even among siblings
Differential Diagnosis
