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Charcot-Marie Tooth Disease

Charcot-Marie-Tooth Disease (CMT) is a hereditary neurological disorder characterized by damage to the peripheral nervous system, especially the nerves that carry signals from the brain to and from the hands and legs. CMT is caused either by defects in the gene that codes for axons (nerve fibers) or myelin sheath (covering the axon). Some of the symptoms of CMT include:

  • Muscle weakness and wasting
  • Loss of sensation in the hand, feet, legs and forearms
  • Stiffening of joints
  • Abnormal tightening of muscles
  • Scoliosis (curving of spine)
  • Respiratory impairment (when the nerves of the diaphragm are affected)
  • Curled toes
  • Frequent falls

CMT can be diagnosed by evaluating your medical history and performing a thorough 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 and electromyography (measures the electric activity of nerves and muscles), nerve biopsy (laboratory examination of a piece of nerve tissue) and genetic tests, may also be performed to confirm the diagnosis.

CMT cannot be completely cured; however, it can be managed with physical therapy (exercises to prevent muscle tightening), occupational therapy (treatment to help in your day-to-day activities), orthopedic devices (use of braces or splints for mobility and to prevent leg injuries) or surgery to correct deformities. Though CMT progresses with time, it is not known to reduce your normal life span.

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© Jessica Gallina MD, Orthopaedic Surgeon - Foot and Ankle , New York, NY
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