How do our doctors diagnose Charcot-Marie-Tooth disease?

Your doctor will typically diagnose Charcot-Marie-Tooth after doing a complete neurological exam and asking about your family history. Other tests that help make the diagnosis include:

  • A blood test to look for genetic defects
  • Nerve conduction studies to measure the strength and speed of electrical signals passing through your nerves
  • Electromyography to measure how well your muscles respond to electrical stimulation
  • Nerve biopsy, which involves taking a small piece of a nerve and examining it under a microscope

How do our doctors treat Charcot-Marie-Tooth disease?

There is no cure for Charcot-Marie-Tooth, but your doctor can design a treatment plan based on your child’s symptoms. Some of the most common treatments include:

  • Physical therapy to strengthen muscles and prevent or delay disability caused by weakness and deformity.
  • Occupational therapy to help with your daily activities. This includes using special devices like rubber grips, or changing from buttons and zippers to Velcro and snaps.
  • Orthopedic devices to maintain everyday mobility and prevent injury. Common orthopedic devices include leg and ankle braces, high-top boots, and thumb splints.
  • A nighttime breathing assistive device , in severe cases of CMT disease affect your breathing.
  • Pain medicines , if needed.

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