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Ataxia Telangiectasia

Though rare, ataxia telangiectasia is a condition that causes a person's immune system to break down. This increases the person's risk for infections and different forms of cancer. People with this condition have two copies of an altered ATM gene -- one from each parent. Currently, there is no cure and no way to slow down the progression of the disease. As such, treatment involves relieving symptoms and providing supportive care.

What Is Ataxia Telangiectasia?

Ataxia telangiectasia is a rare medical condition that affects a number of different organs in the body, including the brain. This condition affects the immune system, causing it to break down and making the body susceptible to diseases. Ataxia telangiectasia gets progressively worse over time.
 
Approximately 1 out of 40,000 to 1 out of 100,000 people are affected by ataxia telangiectasia worldwide. People with this condition are frequently wheelchair-bound by their teens. The disease is generally fatal by the time a person reaches his or her 20s.
 

Symptoms of Ataxia Telangiectasia

The first signs of ataxia telangiectasia usually occur during the first decade of life. Early symptoms of can include:
 
  • Delayed development of motor skills
  • Poor balance
  • Slurred speech
  • Recurrent sinus and respiratory infections.
 
Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of ataxia telangiectasia, but are not always present and generally do not appear in the first years of life. About 20 percent of people with ataxia telangiectasia will develop cancer, most frequently acute lymphocytic leukemia (ALL) or lymphoma. Other symptoms may include:
 
  • Mild diabetes mellitus
  • Premature graying of the hair
  • Difficulty swallowing
  • Delayed physical and sexual development.
 
Children with this condition usually have normal or above normal intelligence.
 

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Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD
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