Charcot Marie Tooth

Sumbitted by Karen L. Bauer

One of my closest friends was diagnosed with Charcot Marie Tooth, a form of muscular dystrophy, when she was in her late 20’s. She told me her first symptom was that she started to walk awkwardly. Her father suggested she see a doctor to determine what was causing the change in her mobility. She saw an endocrinologist who did extensive blood work and neurological testing. It was this doctor who diagnosed Charcot Marie Tooth. This was approximately 30 years ago.

Since then the disease has progressed slowly. She describes her symptoms as follows: She cannot walk on the balls of her feet. Whereas most people step heel, ball, toe, she lifts her foot up and places it down flat in front of her as she walks. There is weakness in her legs, particularly in her shins and calves. She has high arches and hammer toes. Her forearms and hands have weakness. She finds it difficult to stand for extended periods of time and tires more easily as she has gotten older. She has severe difficulty going up steps, but walking down them is easier. According to information on the Charcot Marie Tooth Fact Sheet, published by the National Institute of Health, these are common symptoms of the disease.

Hammer toes High arches Muscles in hands Muscle deterioration in legs

Each year she has an evaluation at a muscular dystrophy clinic. At the present time, she still plays tennis, swims, and practices yoga every week. She says the yoga has helped her with her balance. She took up golf last year. Although, as she jokingly remarks, she will never become a professional in any of these sports, the doctors encourage her to stay active and if necessary , seek therapy, because physical therapy, occupational therapy, and physical activity may help maintain muscle strength.

Charcot Marie Tooth (CMT) an inherited disorder, is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States (Charcot Marie Tooth Fact Sheet). There are more than 70 forms of the disorder. Most forms of CMT are passed down from dominant genes, however, some forms are inherited from recessive genes. This means that someone may be affected by CMT even though the parents do not have the disease. This happened because each of the parents has a mutation in one of their two copies of a CMT gene. If a child inherits one mutated CMT gene from each of his/her parents, the child will develop CMT. There is a one in four chance of this occurring. There is a rare chance CMT will result from a mutation and not be inherited. My friend’s CMT is the result of recessive inheritance. Her sister does not have the disease.

CMT damage results in peripheral nerve damage in one of two ways. Either the myelin sheaths surrounding the nerves is damaged or the nerves fibers themselves can be damaged. Either way, 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. Consequently, these nerves slowly degenerate and lose the ability to communicate with their distant targets. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and in some cases the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain” (Charcot Marie Tooth Fact Sheet). CMT is typically a slow progressing disease. Currently there is no cure nor can the progression of the disease be slowed, although research continues.

I have gained a deeper understanding of and appreciation for the complexities of the human brain and our neuroanatomy. It has given me insight into how amazing, resourceful, and fragile the human body is. It is amazing that the brain and nervous system can recover from or compensate for damages. I have been inspired by the thoughtful comments and discussions in the forums. In day to day interactions with people, I have a better understanding of those individuals who are dealing with hearing, visual, or physical impairments. My interactions with others will be enhanced by my knowledge of their challenges.

References:

http://www.cmtausa.org/index.php?option=com_content&view=article&id=70&Itemid=159

http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm