Charcot-Marie-Tooth disease

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Preparing for your appointment

By Mayo Clinic staff

You might first discuss your symptoms with your family doctor, but he or she will probably refer you to a neurologist for further evaluation.

What you can do
Because appointments can be brief, plan ahead and write lists of important information, including:

  • Detailed descriptions of all your symptoms
  • All your medications and dosages, including nonprescription drugs and supplements
  • Questions for the doctor, such as what tests or treatments he or she may recommend

What to expect from your doctor
Your doctor will want a detailed description of your symptoms and will ask if anyone in your family has ever had similar symptoms.

During the physical exam, your doctor may check for:

  • Signs of muscle weakness in your arms, legs, hands and feet
  • Decreased muscle bulk in your legs, resulting in an "inverted champagne bottle appearance"
  • Reduced reflexes
  • Sensory loss in your feet and hands
  • Foot deformities, such as high arches or hammertoes
  • Other orthopedic problems, such as mild scoliosis or hip dysplasia
References
  1. Charcot-Marie-Tooth disease fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm?css=print. Accessed May 19, 2010.
  2. Facts about Charcot-Marie-Tooth disease and related diseases. Muscular Dystrophy Association. http://www.mda.org/publications/PDFs/FA-CMT.pdf. Accessed May 19, 2010.
  3. Inherited neuropathies. In: Fauci AS, et al. Harrison's Principles of Internal Medicine. 17th ed. New York, N.Y.: The McGraw-Hill Companies. http://www.accessmedicine.com/popup.aspx?aID=2907233&print=yes. Accessed May 20, 2010.
  4. Cruse RP. Hereditary primary motor sensory neuropathies, including Charcot-Marie-Tooth disease. http://uptodate.com/home/index.html. Accessed May 21, 2010.
  5. Treatment and management of CMT. Charcot-Marie-Tooth Association. http://www.charcot-marie-tooth.org/about_cmt/prn_treatment.php. Accessed May 20, 2010.
  6. Klein CJ (expert opinion). Mayo Clinic, Rochester, Minn. May 23, 2010.
DS00557 Aug. 7, 2010

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