Charcot-Marie-Tooth Medical Information and Background




The month of September has been declared Charcot-Marie-Tooth Awareness Month in about 13 states across this country. So with September being Charcot-Marie-Tooth (often shortened to CMT) Awareness Month I thought I would help spread awareness of CMT to my little corner of the world. I am quite familiar of what CMT is and what it is like to live with CMT.



At the beginning I was going to post one extremely long post about what CMT is and what it is like to live with CMT, but after starting I decided against that. I really didn't think anyone would read one for so long, so I have broken my story down into shorter posts to make it easier to read. I hope everyone will come back to learn more about CMT and what it is like to live with it.

CMT is the most commonly inherited neuromuscular dystrophy that affects roughly 1 in every 2,500 Americans and about 2.8 million people around the world. Please note that I said inherited, as I know that MS and ALS are heard of more often than CMT but they are not normally inherited. Another name that CMT is known by is Hereditary Motor and Sensory Neuropathy (HMSN) but not often. CMT typically affects the nerves of the feet/legs and hand/arms. Sometimes CMT can affect other nerves such as the diaphragm but not all that often. On the most part CMT is a non-lethal disorder that can wreak havoc in a person's life until they adjust.

Symptoms of CMT can range from mildly weak ankles all the way to being confined to a wheelchair. With that wide range of symptoms there could be so many more people who could actually have CMT but don't even realize it. Those people could just think that they have Aunt Sally's weak ankles or Uncle Bob's heavy walk for they never show any other symptoms of CMT, yet in reality they may just possibly have CMT, though I am not saying that they all have it, but it is just a possibility. Those who are undiagnosed, if they became diagnosed would raise the numbers greatly.

CMT was discovered in the mid 1880's by two French doctors (Jean-Martin Charcot and Pierre Marie) and one English doctor (Henry Tooth). Charcot and Marie were in Paris, France working together, while Tooth who was in Cambridge, England by himself. Though these two groups of doctors were not working together, they all discovered CMT at the same time, which is why the disorder is named after the three doctors.

There are about half a dozen types of CMT with Type 1 being the most common, followed by Type 2. As I said it is inherited, and it only takes one parent to pass the gene down to a child. That child has only a 50/50 chance of inheriting the CMT gene. There are some very rare occasions when the CMT will spontaneously mutate in a person.

CMT is not a predictable disorder in any way, shape or form. There is absolutely no way to predict how CMT will progress in the future no matter what some doctors like to think. This is a disorder that seems to like to have fun in playing a guessing game with the patient, for no two people with CMT will have the exact same symptoms at the same age or stage and follow that person perfectly through life. CMT affects everyone differently even within the same family, and siblings will be affected differently as well. For example I was only 11 years old when I was diagnosed with CMT while a sibling was in their late teen years when diagnosed.

In essence CMT kills the peripheral nerves which lead to the atrophying of the muscles leaving hands and feet clawed in various degrees. When I that the CMT kills the nerves, it is basically doing that in one of two ways. One way is that the nerve itself is being destroyed and the other is the protective sheath around the nerve is being destroyed. Either way the destroyed nerve is no longer able to communicate with the rest of the nervous system or communicates slowly.

There is no known cure for CMT but there is research constantly going on so who knows what the future will bring. There is also no known way to prevent the CMT from beginning to progress or to stop progression of the CMT. Though there is no known cure or prevention of CMT, there are plenty of treatments for people who live with CMT to help them live better and fuller lives. Just a few of the treatments are: physical therapy, occupational therapy, various devices (medical and non-medical), surgeries, and some medications that will help control some symptoms. Some people who are diagnosed with CMT will never need to seek treatment for any of their symptoms because their CMT is something that barely bothers them. There are others who will only use a few treatments. Then there are others who will use numerous treatments. Frankly the treatments that a person agrees to will depend on the severity of the CMT, what the person is willing to try and what the doctor is suggesting.

Below I have listed several links to medical sites that have a lot more information on CMT for those who are interested in learning more about it.







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