More Information on Ataxia Telangiectasia

What to Remember About Ataxia Telangiectasia

Key information about ataxia telangiectasia includes the following:
  • Ataxia telangiectasia is a primary immunodeficiency disease that affects a number of different organs in the body. An immunodeficiency disease causes the immune system to break down, making the body susceptible to diseases.
  • This is a rare, recessive genetic disorder in children that occurs in 1 out of 40,000 to 1 out of 100,000 people worldwide. It is a progressive condition (i.e., it gets worse over time). People with ataxia telangiectasia are frequently wheelchair-bound by their teens, and the disease is generally fatal by the time they reach their 20s.
  • The first symptoms of ataxia telangiectasia, which include delayed development of motor skills, poor balance, and slurred speech, usually occur during the first decade of life. Telangiectasias, which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life.
  • An estimated 1 percent of the U.S. population, or about 2.5 million people, may be carriers. Ataxia telangiectasia has no racial, economic, geographic, or educational barriers, and males and females are equally affected.
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