How Is Ataxia Telangiectasia Diagnosed and Treated?

Diagnosing Ataxia Telangiectasia

A key laboratory test used to diagnose ataxia telangiectasia is the measurement of "fetal proteins," or serum alpha-fetoprotein, in the blood. Fetal proteins are usually produced during fetal development, but they may persist at high levels in some conditions (such as ataxia telangiectasia) after birth. More than 95 percent of people with this condition have high levels of serum alpha-fetoprotein.
Doctors will make an ataxia telangiectasia diagnosis if:
  • There are high levels of alpha-fetoprotein in the blood
  • Other causes of high alpha-fetoprotein in the blood are ruled out
  • The person has high levels of alpha-fetoprotein in the blood and also has the characteristic signs and symptoms.

Treatment for Ataxia Telangiectasia

Currently, there is no cure for ataxia telangiectasia and there is no way to slow down the progression of the disease. Therefore, treatment is aimed at relieving a person's symptoms and providing supportive care. Treatment options can include:
  • Physical and occupational therapy to help maintain flexibility
  • Speech therapy
  • Gamma-globulin injections to help supplement a weakened immune system
  • High-dose vitamin regimens.
The prognosis for individuals with ataxia telangiectasia is poor. Most people with this condition will die in their teens or early 20s.
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