Charcot-Marie-Tooth Disease (CMT)

What is Charcot- Marie- Tooth Disease?

Charcot-Marie-Tooth Disease (CMT) is a neurological disorder characterized by damage to the peripheral nervous system which carries signals from the brain to various parts of the body and vice versa. This condition was named after 3 physicians Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. CMT is caused either by the defects in the gene for proteins that protect the axons (nerve fibers carrying signals between the brain and the rest of the body) or in the gene for proteins that affect the myelin sheath (the sheath covering the axon). 

Symptoms of Charcot- Marie- Tooth Disease

Some of the symptoms of CMT are: 

  • Muscle weakness
  • Loss of sensation in the hand, feet, legs or forearms
  • Stiffening of joints
  • Abnormal tightening of muscles
  • Scoliosis (curving of the spine)
  • Respiratory impairment
  • Curled toes 
  • Frequent falls

Diagnosis of Charcot- Marie- Tooth Disease

CMT can be diagnosed with the help of your medical history and physical examination. Your doctor checks for signs of sensory loss, reduction in reflexes, muscle weakness and deformities in your feet. Other tests such as nerve conduction tests (a measurement of the speed of electric signals), electromyography (a measurement of electric activity), nerve biopsy (laboratory examination of a piece of your nerve tissue) and genetic tests (to detect genetic tests) are performed to confirm the diagnosis. 

Treatment of Charcot- Marie- Tooth Disease

CMT cannot be cured; however, it can be managed with the help of certain treatments such as physical therapy (exercises to prevent muscle tightening), occupational therapy (treatment to help your day to day activities) orthopedic devices (use of braces or splints to prevent leg injuries) or surgeries. Though CMT tends to progress with time it is not known to reduce your normal life span.