Time to Change your Facebook picture for CMT Awareness Month

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September is Charcot-Marie-Tooth Awareness Month. Help spread the word by changing your Facebook profile picture and any social media avatar to our poster.

CMT Awareness Month poster 2012

Whenever I answer the question of “What’s wrong with you?”- with I have Charcot-Marie-Tooth disease, the response is, usually: “Shark teeth. What? followed by: “What’s wrong with your teeth?” Hence the need for Awareness Month.

What is CMT?


CMT, a genetic peripheral neuropathy, leads to the loss of normal function of arms, legs hands & feet, due to nerve damage and muscle wasting. CMT affects approximately 1 out of 2,500 people or around 150,000 Americans, yet most people and many doctors are unfamiliar with it.
Hence the need for Awareness Month.


Symptoms:

  • weakness & muscle wasting in the extremities
  • foot drop loss of balance\
  • hammer toes
  • high arches or flat feet
  • muscle cramping
  • loss of some reflexes
  • loss of sensory nerve function
  • bone abnormalities
  • curvature of the spine
  • rarely difficulty breathing

Diagnosis:

  • family history and neurological exam- CMT is primarily hereditary with the most common forms of CMT inherited in an autosomal dominant pattern. However, spontaneous mutations resulting in “de novo” cases do occur.
  • nerve conduction velocity test (NCV) - delayed responses signified demyelination (type 1) and reduced responses indicates axonopathy (type 2).
  • electromyogram (EMG) to measure the electrical signals’ strength in the muscles of the arms or legs.
  • genetic testing- currently, 22 types can be identified by DNA blood testing: 1A, 1B, 1C, 1D, 1E, 1F, 1X, 2A, 2B, 2E, 2F, 2I, 2J, 2K, 4A, 4C, 4E, 4F, 4J, HNPP, CHN, and DSN.

For more information visit: http://www.athenadiagnostics.com/content/test-catalog/

  • If all the diagnostic work-up is inconclusive or genetic testing comes back negative, a nerve biopsy may confirm the diagnosis

Treatments:

  • there is no cure or medication for CMT
  • physical therapy
  • occupational therapy
  • braces, AFO’s
  • orthopedic surgery
  • pain medications

For more information: www.cmtausa.org

Resources: www.cmtausa.org
www.ninds.nih.gov
www.athenadiagnostics.com