March 7, 2007

Ataxia Telangiectasia

Ataxia Telangiectasia is a disorder that causes the progressive degeneration of the brain. It is an extremely rare disorder only occurring in one in forty thousand to one in one hundred thousand people.

The disease is an autosomal recessive trait, thus a child must inherit an abnormal gene from both parents in order to develop the disease. There is a twenty five percent chance of this occurring if both parents are carriers of the mutated gene.

The initial symptoms of the disease will generally occur within the first ten years of life and include poor balance, speech difficulties and delayed development of motor skills. In some cases, small red spider veins may also develop around the eyes.

Starting form these first years of childhood, the disease slowly progress causing severe spinocerebellar degeneration. Most people suffering from the disease are wheelchair bound by the time they reach adolescence.

There are three different forms of Ataxia Telangiectasia. Ataxia Telangiectasia is characterized by a patient suffering from all or most of the common symptoms of the condition. Attenuated Ataxia Telangiectasia is characterized by the individual suffering from some (but not all) of the diagnostic symptoms. Those suffering from the final form, Carrier Ataxia

Telangiectasia, have only inherited a single mutated gene from one parent. These people will generally not display the symptoms of the disease; however, they will have a higher risk of developing cancer than most other people.

This disorder commonly results in an increase in immunodeficiency, rendering the individual at high risk of developing sinopulmonary infections in particular. People suffering from the condition will also experience impaired organ maturation and sensitivity to x-rays. Ataxia Telangiectasia is also associated with the development of certain malignancies. Studies have shown that approximately twenty percent of those suffering from the condition will develop cancer.

There is no cure for Ataxia Telangiectasia and no specific treatment. Depending on the symptoms a person might develop, it may be possible to implement symptomatic treatment to optimize quality of life. Ultimately, those suffering from the more severe forms of Ataxia Telangiectasia will die within the first twenty years of life.

Principles of Biochemistry by Albert Lehninger, Davi...