What is Charcot–Marie–Tooth Disease?

OK Friends,

Blog post #1

First off… Yes this is a extremely funny name for a disease. But no there is absolutely nothing wrong with my teeth and no it has nothing to do with Sharks. Even with the acronym of CMT we still get the comments of Country Music Television. All these things and more are just a reminder to us in the CMT community that people just don’t know. Charcot-Marie-Tooth is named after the three physicians who were the first to describe it in 1886: Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth.

So funny names aside what exactly is it? CMT is a group of inherited disorders that affect the peripheral nerves, which are the nerves outside the brain and spinal cord. There are 90 kinds of CMT. CMT is just one kind of neuropathy (also called peripheral neuropathy), meaning simply that the peripheral nerves are damaged. There are many other causes of neuropathy, including the most common cause—diabetes.

CMT is often referred to as the most common disease that nobody has ever heard of. Common???? Really? Well yes 1 in 2500 people have CMT. Here are some shocking numbers. I’m willing to bet that you have probably heard of ALS. And most likely heard of MS as well. 1 in 3,333 have MS and ALS is even less common with 1 in 500,000 having it. But yet CMT is still under the radar, why? A lot of us are ashamed and/or embarrassed by it. I myself hid from it for years and refused to wear shorts because people would look at me funny or worse embarrass me by asking me about it. Times have changed and now my goal is to educate and inspire. CMT needs to be a household name.

CMT is inherited. It is not contagious, nor is it caused by anything in the environment. The most common forms of CMT are passed down from one generation to the next, meaning that it is dominantly inherited.

Some forms of CMT are recessively inherited—a person may be affected even though his or her parents do not have CMT. In this case, each of the parents harbors a mutation in one of their two copies of a CMT gene. If a child inherits one mutated CMT gene from each of their parents (the chance of this happening is one out of four), the child will develop CMT.

Sometimes the mutation that causes CMT happens spontaneously during the process that produces the eggs or sperm. In these rare cases, a child will have CMT even though neither parent has CMT. If a child has such a spontaneous mutation, he/she may pass that mutation down to his/her offspring. (And in my case this is what happened with me)

Some types of CMT cause damage to the covering (myelin sheaths) that surrounds nerve fibers. Other kinds of CMT directly damage the nerves fibers themselves. In both cases, the damaged nerve fibers result in neuropathy. The nerves in the legs and arms, which are the longest, are affected first. Nerve fibers that create movement (called motor fibers) and nerve fibers that transmit sensations (called sensory fibers) are both affected. CMT causes weakness and numbness, usually starting in the feet.

In the most common kinds of CMT, symptoms usually begin before the age of 20 years. They may include

  • Foot drop (inability to hold foot horizontal)
  • Foot deformity (very high arched feet)
  • Slapping” gait (feet slap on the floor when walking because of foot drop)
  • Loss of muscle in the lower legs, leading to skinny calves
  • Numbness in the feet
  • Difficulty with balance
  • Later, similar symptoms also may appear in the arms and hands

    (All of which I have. Plus some)


Thank You for checking out my new blog. Please remember I am not doing this for pity. I have decided to share my story and my experiences for awareness purposes. Please feel free to ask questions. Your questions will help create topics for future posts. Thank you and God Bless!!!


Next Post Topic: Early years leading to my diagnosis.









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