Charcot–Marie–Tooth disease
Neuropathia hereditaria sensitivomotoria (Charcot-Marie-Tooth) · Charcotova–Marieova–Toothova choroba
What it is
The commonest inherited nerve disease, about 1 in 2,500: long nerves slowly fail from the feet up — high arches, thin calves, foot drop, later weak hands; lifespan is normal.
Symptoms & signs
- High-arched feet, hammer toes
- tripping, foot drop, ankle sprains
- thin lower legs ('inverted champagne bottle')
- numb feet, cold feet
- weak hands later
- family history
🚩 Get help if…
- see a doctor soon Frequent falls or tripping getting worse
- see a doctor soon Foot sore, blister or burn you didn't feel
- see a doctor soon Weakness spreading fast over weeks
- see a doctor soon Breathlessness or trouble swallowing
Where it strikes
Medical treatment
- Nerve conduction tests, genetic testing
- Physiotherapy and ankle–foot orthoses trials support
- foot surgery for severe deformity
- avoid nerve-toxic drugs — vincristine especially
- genetic counselling
Natural & lifestyle
- Regular moderate exercise — keeps strength
- foot care and good shoes
- healthy weight
Emerging & experimental
- Gene silencing for CMT1A (PMP22) early / small studies
- High-dose vitamin C for CMT1A — no benefit in trials not confirmed in trials
- PXT3003 — trial results mixed
Alternative, off-label & anecdotal
Approaches used outside the guidelines, with what their supporters report and what testing has found so far.
- High-dose vitamin C — no benefit in several trials not confirmed in trials
- Curcumin — animal studies only early / small studies
- Hydrotherapy and yoga — keep balance and strength; few trials mixed evidence
ICD codes
- ICD-10 G60.0
- ICD-11 8C20.Z Hereditary motor and sensory neuropathy, unspecified