Sunday, January 6, 2008

CMT – a Patient’s Understanding and Perspective

This week we have the pleasure of introducing you to Mark Linton who writes about Charcot Marie Tooth Disease, CMT. As someone with this condition, Mark writes from his perspectives, offering not only his reflections, but practical information about the disease. We are honored that one of the local CMT support groups has chosen Capabilities as a place to meet. Their recent meeting was on Saturday, January 5. Rosi Mauch from Athena Labs spoke about DNA testing for CMT patients. Athena is a leader providing advanced neurological analysis. Please watch our Events section for future meetings. You can also contact Diane Covington at (303) 635-0229 or via email for more discussion and information.

We thank you, Mark Linton, for your thoughtful and personal blog. Thanks, too, to Diane for taking the lead in mobilizing the support group. We love collaborating with you.

NOTE: This article is intended to share some personal knowledge / insight into CMT and some of the ways it has affected my life. I am neither a physician nor an expert on this disease, therefore I make no guarantees of complete accuracy of any of the information that I am presenting here, as it is based upon my own (mostly laymen’s) understanding of the disease.

I have been afflicted with CMT since I was a youngster (approximately age 10), and through the years I have had to learn how to cope with, and in some instances learn to accept, the limitations it has imposed on my life. However, it has also been a constant learning experience and challenge to not allow CMT to control my life. The key has been to constantly find the balance of adhering to my known limitations, while also allowing myself reasonable freedom and growth to prove to myself that there is always a lot more things that I can do in life with CMT, than there are things I cannot do because of it.

In my own experience, I have found that CMT seems to be a largely unknown and / or misunderstood disease, both by the general population and Physicians alike. CMT stands for Charcot-Marie-Tooth disease (pronounced “Sharko-Maree-Tooth”), and no, contrary to common misconception when reading the name, it has nothing to do with one’s teeth. The three words are actually the last names of the three Physicians that first discovered the disease in the 1800’s. Other names I have also heard it referred to are Peroneal Muscular Atrophy and Hereditary Motor and Sensory Neuropathy. It is a peripheral nerve disease (usually inherited) that primarily affects the feet and legs, but also affects the hands and related fine motor skills such as writing, fastening buttons, etc. There are many different subtypes of CMT, and I was diagnosed with type 1A (supposedly the most common form). CMT inhibits the conduction of peripheral nerves and the result is muscle atrophy and wasting in the feet, legs and hands. In more rare cases, breathing can also be affected.

Some commonly visible symptoms of CMT are a high arch of the foot (although this can be at least partially remedied with surgery), thinner than normal calf muscles, abnormal walking gait (i.e. a “slapping gait” where the patient lifts their feet higher than normal during walking to avoid tripping and falling), scoliosis (curvature of the spine) and thinner than normal wrist and hand muscles. The abnormal walking gait is a result of muscle atrophy in the foot causing “foot drop” where the foot drops down during walking and can cause tripping. AFO’s (Ankle Foot Orthotics) can help with this condition by preventing the foot drop. The high foot arch is also caused by muscle atrophy by causing uneven pulling and tension on ligaments and bones.

Some non visible symptoms (usually only apparent to the patient), are balance problems (a result of the muscle atrophy) and somewhat related lack of “knowing where your feet are” especially after sitting for awhile, decreased sensual feeling in the hands and feet, pain and cramping in different forms, calluses on the feet resulting from the high foot arch, decreased hand / gripping strength, etc.

There is currently no cure for CMT, although there are assistive devices that can help with everyday activities (i.e. AFO’s, mentioned previously, button fastening tools, etc.). Other important aspects in managing CMT are regular, conservative to moderate exercise to help prevent muscle tightening as the muscles weaken, and pain management as necessary. Unfortunately, some patient’s muscle atrophy eventually requires them to use walking assistive devices or even wheelchairs.

Another very important aspect of managing the disease (in my own opinion), is belonging to support groups such as our group that meets at the Capabilities store in Westminster. This provides an invaluable resource in many ways, both practically and personally. We recently had a guest speaker (Martin McCorkle) that has CMT and came to Denver to share his own experiences with having the disease. He also wrote a book describing some of the major accomplishments and achievements that he has done in spite of having CMT. Hearing Martin talk was truly an inspiration. That, along with the camaraderie of others afflicted with CMT and how they have dealt with it, provides insight and a “personal touch” that can truly improve anyone’s perspective that has the disease. Diane Covington, who started this support group, compiled a fantastic Resource Directory that includes recommended physician’s names, preferred retailers for such things as shoes (based upon group member’s experiences), and much more, all relevant to CMT. There is another CMT support group in Denver that is primarily run by the MDA (Muscular Dystrophy Association), as it is a disease covered under MDA’s umbrella as well. So, Denver area based CMT patients have several options available to them.

I hope you have found this article interesting and informative regarding Charcot-Marie-Tooth disease. Please feel free to contact, Mark Linton, for more discussion.
Please also feel free to post your comments or questions here.

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