Ataxia Telangiectasia is a genetic disorder that occurs about once out of every 40,000 births that take place. With this knowledge, it should be rather obvious that it is a rare disease and that is one reason why so little information is known about it. Children diagnosed with AT normally do not live past their teens or early 20�s. There have been very few instances when AT patients have lived to forty or older.
Within the past few years, research has been done to find out which chromosome has the mutation code for AT on it. The gene for AT is scattered about a karyotype and can very substantially. However, researchers have come up with a consistent patter that they have dubbed, ATM, or the AT Mutation gene. This pattern can, and usually does, vary among patients. This is another reason why AT is such a difficult disease to combat. A complete listing of the generic ATM gene can be found at, http://www.vmresearch.org/atm.htm.
The definition of Ataxia Telangiectasia is broken down into to subcategories. Ataxia refers to the degeneration of the cerebellum, the lobe of the brain that controls balance and muscle coordination. Since this lobe progressively becomes unhealthy, the nerves misfire signals and the AT patients lose control over their muscles. This can lead to the appearance that the person is having a seizure of some sort, but they are actually experiencing a full-body muscle spasm. Telangiectasia refers to the little red spider veins found on their body. These �telangiectasias�, are entirely harmless and only appear in the corners of the eyes, on the ears and cheeks exposed to the sun.
Since AT is a genetic disease, it would only seem fitting that it is not only the brain that becomes dysfunctional but the immune system as well, right? With this in mind, it can be understood that approximately 70% of the children with AT experience chronic respiratory infections. These infections do not respond to antibiotics like they would in another person with out AT because the person with AT is missing key components in their blood to fight off these diseases.
Now, we know that the brain and the immune system become null and void in an AT patient, what else is there that is defective? Because AT patients have lowered immune systems, they develop cancer much easier than another person would. The main cancers found in children with AT are leukemia and lymphoma, both of which are cancers dealing with the blood. To further complications, because of another mis-functioning part of their bodies, AT patients can not tolerate radiation therapy to eliminate the cancer. This leaves chemotherapy, which will guarantee that the person becomes ill, and surgery, which is a high-risk maneuver when dealing with someone whose immune system is not up to snuff. But this is only the surface of this �wonderful� genetic mix up. Other problems could lead to difficulty in swallowing, causing choking or drooling, and mild diabetes mellitus. Also, there is typically premature graying of hair and slowed growth.
With the information presented, one can only hope that not only do people that they know and love not carry this disease or have this disease. However, for those that have been affected by this tragedy, they can only hope for a cure. Even though there is currently no solution to ending this monster, or even slowing the progression of it, there are tests available to check to determine if someone is a carrier of this disease. This means that there is always hope.
(Author not listed). �About AT,� AT Children�s Project.
http://www.atcp.org/. 12-07-02
(Author not listed). �Ataxia-Telangiectasia Mutations Database,�
Virginia Mason Research Center. 04-03-02.
http://www.vmresearch.org/atm.htm. 12-07-02
Gatti, Richard A. M.D. �Ataxia Telangiectasia,� Gene Reviews.
10-08-02.
http://www.geneclinics.org/profiles/ataxia-telangiectasia/.
12-06-02