Friday, September 28, 2012

CMT Awareness Month


As September comes to a close, let's take a moment to talk about CMT, Charcot-Marie-Tooth Disorder. September is CMT Awareness Month and most likely you have not heard about this nerve disease however, 1 in 2,500 Americans have CMT. 

I would like to share with you a bit about CMT and a little about someone I know with CMT

I first learned of CMT from my friend, Donna. 
Donna is a triathlete that does not let CMT stop her from living a healthy and active lifestyle. This Londonite (with ties to Maine) also has done other amazing endurance accomplishments such as century rides and the 4.4 mile Chesapeake Bay swim.  I was able to follow her adventures at the London Olympics and her participation in the US National Para-triathlon Championships. Donna writes the blog Beating Limitations and can be found tweeting positivity on Twitter most days.

How does CMT impact Donna?


- telling her body to move fast but no response
- sensitivity to cold / heat
- fatigue (some days she says she "can't do anything but stare at a white wall!")
- muscle twitching 
- foot and ankle problems
- cramping in her calves
- low power output
- weak hands / drop things lots
- running is tough!
- being slow!
- it's progressive degenerative and there's no cure, causing atrophy from our extremities inward
- it's a problem of the nerves - either myelin or axons - which causes slow transmission of signals to muscles leading to degeneration











So what is CMT?
Here is some info about this nerve disease from The Charcot-Marie-Tooth Association:


CMT FACTS

  • CMT is also known as peroneal muscular atrophy (PMA), or hereditary motor sensory neuropathy (HMSN). It is one of the most commonly inherited neurological disorders.
  • CMT was discovered in 1886 by three physicians for whom it was named; Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.
  • CMT is usually inherited in an autosomal dominant pattern, which means if one parent has CMT there is a 50/50 chance of each child inheriting the disorder.
  • It is slowly progressive, causing deterioration of peripheral nerves, which control sensory information and muscle function of the foot/lower leg and hand/forearm.
  • Depending upon the severity and type of CMT, it may cause foot-drop walking gait, foot bone abnormalities, high arches and hammer toes, loss of muscle tissue, problems with balance, problems with hand function, occasional lower leg and forearm muscle cramping, loss of some normal reflexes, scoliosis (curvature of the spine) and sometimes, breathing difficulties.
  • Patients may lose feeling in their hands and feet putting them at risk for blisters, burns, and sores.
  • CMT has no known cure, although physical therapy, occupational therapy and moderate physical activity are beneficial.
  • It does not affect life expectancy, but can, in rare instances, cause severe disability. CMT can be detected at any age. Typically, the first signs may include leg weakness, frequent tripping and falling.
  • It can vary greatly in severity, even within the same family.
  • The CMTA was formed in 1983. Its mission is to generate the resources to find a cure, to create awareness, and to improve the quality of life for those affected by Charcot-Marie-Tooth.
  • The CMTA website is WWW.CMTAUSA.ORG.
  • The CMTA provides patient support, public education, and promotion and funding of research.
  • Mr. Patrick A. Livney serves as its Chief Executive Officer.
  • The CMTA has launched an initiative, known as the Strategy to Accelerate Research™ (STAR). STAR is designed to lead to new treatments for CMT within three to five years.
  • STAR researchers are able to replicate the disorder in the laboratory and in doing so, can begin testing new treatments that will ultimately lead to clinical trials in people. In addition, the translational science used in the research could have major implications for the treatment of a host of related genetic disorders, including Multiple Sclerosis, Muscular Dystrophy and ALS (Lou Gehrig's disease).
  • There is a Medical Advisory Board in place, which consists of over fifty international research and medical professionals.
So now you know a little more about CMT. 

4 comments:

Frickin' Fabulous at 40 said...

It sounds a little like MS. I wonder how many people are diagnosed with MS but have actually have this disorder.

Jen said...

Linda, I immediately thought the same thing. It sounds like a super challenging thing to have to manage and live with - a true testament to your friend for her strength.

Thanks for sharing- I had never heard of this.

Donna said...

I think some of the effects appear the same, but the causes of MS and CMT are different. CMT is most commonly detected by looking at nerve conduction, as it is a disease of the nerves. MS is a disease which impacts the brain and spinal chord, having consequential impact to nerves. Research into nerves, though, benefits both!

Doreen said...

Thanks for writing about this!!Donna inspires me!