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Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth (CMT) disease is a group of inherited disorders that affect the nerves that control the muscles and detect sensations, such as touch, pain, heat, and sound. CMT is divided into subtypes (CMT1, CMT2, CMT4, CMTX) based on how the nerves are affected and the genetic cause.

Symptoms

• Muscle weakness (usually starting in the feet, later affecting the legs and hands)
• High arches of the foot or curled toes
• Higher than normal step/gait
• Difficulty with daily activities, such as writing, fastening buttons, or turning doorknobs
• Pain or numbness in feet or lower legs
• Decreased sensitivity to heat or cold
• Hearing loss

Genetic Test

The following genetic tests may be appropriate based on your personal and/or family history.

• CMT1
  • PMPP2, MPZ, LITAF, EGR2, NEFL
• CMT2
  • KIF1B, MFN2, RAB7, LMNA, GARS, HSPB1, GDAP1, HSPB8
    
• CMT4
  • SH3TC2, NDRG1, PRX, FGD4
    
• CMTX
  • GJB1, PRPS1
    

See our pre-conception and prenatal services

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Resources

Charcot-Marie-Tooth Association

Hereditary Neuropathy Foundation

NIH Genetics Home Reference Page

Muscular Dystrophy Association