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Charcot-Maire-Tooth Disease Symptoms & Diagnosis


Symptom onset and type vary depending on the type of CMT. Usually, symptoms first appear in children and young adults. The first sign of CMT is often a high arched foot or difficulty walking. Other symptoms may include:

  • Hammer toes
  • High arched heels
  • Decreased sensation in the feet and legs
  • Muscle cramping in legs and forearms
  • Flexed toes
  • Difficulty holding the foot up in a horizontal position
  • Frequent sprained ankles and ankle fractures
  • Problems with balance
  • Muscle weakness and atrophy in the lower extremities—can spread to the upper extremities later in life
  • Foot drop
  • Diminished ability to detect hot and cold, vibration, and position
  • Difficulty writing, fastening buttons and zippers, and manipulating small objects
  • Scoliosis
  • Delay in learning how to walk (Type III)
  • Congenital glaucoma (Type IV only)


The doctor will ask about your symptoms and medical history, and perform a physical exam. Tests may include:

  • Nerve conduction study —a test that measures the speed and amplitude of nerve impulses in the extremities
  • Electromyogram (EMG) —a test that records the electrical activity of muscle cells
  • DNA blood test—to confirm certain types of CMT, even if there are no symptoms

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Charcot-Maire-Tooth Disease Guide

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