Wednesday, May 6, 2009

Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease

As you may know a genetic disorder is a pathological condition caused by an absent or defective gene. Charcot-Marie-Tooth Disease is yet one of the many genetic disorders that can be found in our world.

This disease is very complex. There are several different types of CMT disease. These include CMT1, CMT2, CMT3, CMT4, and CMTX. It is very unfortunate that there are several different conditions of this disease. All it does is it makes people more vulnerable to have it. In fact 1 in 2,500 people in the U.S. have this disease. Unfortunately more and more people are diagnosed with this disease every day. Before doctors diagnose they look at the patient’s history and family history to see if anyone else in their family has ever had this disease before. This helps to determine weather or not the patient has the disease.
Sadly, there are many symptoms to Charcot-Marie-Tooth Disease. A couple of these symptoms include weakness of the foot and lower leg muscles and it affects both motor and sensory nerves. Also, it can cause people to have a disability in their hands and feet. Therefore, life is made much harder for them. It is a struggle to even do the daily task of brushing your teeth. Unfortunately, there is no known cure for this malfunctioning disease, but some people with the disease go to therapy and sometimes even orthopedic surgery to help “them cope with the disabling symptoms of"CMT disease. Currently there is research being doProxy-Connection: keep-alive
Cache-Control: max-age=0

for CMT disease. There are efforts to “identify more of the mutant genes and proteins that cause the various disease subtypes.”

Overall, this disease makes me feel very upset because it is hard for me to realize that this disease actually exists. Anyone with this CMT disease has a hard life because their motor skills are affected. I guess I take for granted the simple tasks that I do everyday. I cannot imagine not being able to get dressed or brush my teeth on my own. Even for one day. CMT disease patients have to deal with these challenges everyday. Clearly, Charcot-Marie-Tooth disease is very serious and I think that everyone needs to be informed about it so that they know about other people’s troubles when they think that they’ve got it bad.

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

No comments: