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Ataxia Telangiectasia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Genetics Birth Defects

Ataxia Telangiectasia

Ataxia-telangiectasia (A-T) is a rare, inherited disease that impacts the nervous and immune systems, typically presenting symptoms in children before age 5.

Symptoms

Symptoms of Ataxia-telangiectasia (A-T) appear in young children, usually before age 5. They include:

  • Ataxia: trouble coordinating movements
  • Poor balance
  • Slurred speech
  • Tiny, red spider veins, called telangiectasias, on the skin and eyes
  • Lung infections
  • Delayed physical and sexual development

Complications

People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence.

Treatment & Management

A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins.

Frequently Asked Questions

Diagnosis typically begins with a clinical evaluation of symptoms such as ataxia and telangiectasias. A key diagnostic marker is an elevated level of alpha-fetoprotein (AFP) in the blood, which is found in most patients. Genetic testing for mutations in the ATM gene can confirm the diagnosis. Additionally, doctors may order immunological tests to assess immune function and chromosome analysis to look for specific chromosomal instability, which is a hallmark of the disease. Early diagnosis is crucial for managing associated health risks.
Patients with Ataxia Telangiectasia have a severe sensitivity to ionizing radiation due to defects in DNA repair mechanisms. Exposure to radiation, such as from CT scans or radiation therapy for cancer, can cause significant damage to their cells and increase the risk of developing secondary cancers or other complications. Therefore, doctors must carefully weigh the risks and benefits of any radiation exposure. Alternative imaging methods, such as MRI or ultrasound, should be considered whenever possible to minimize radiation dose. If radiation therapy is necessary for cancer treatment, it must be administered with extreme caution and under the guidance of specialists familiar with A-T.
The most common causes of death in adults with A-T are respiratory infections and cancer, particularly lymphoma and leukemia. Because the immune system is compromised, patients are susceptible to recurrent lung infections, which can be life-threatening. Prevention involves rigorous hygiene practices, prompt treatment of infections, and regular monitoring for signs of malignancy. Some patients may benefit from immunoglobulin replacement therapy to strengthen their immune system and reduce the frequency and severity of infections.
Yes, intelligence is typically normal or even above average in individuals with Ataxia Telangiectasia, as the condition primarily affects motor coordination and the immune system rather than cognitive function. Many patients lead fulfilling lives and can attend school and work, although they may require accommodations for their physical limitations. As the ataxia progresses, mobility may become more difficult, and some individuals may require assistive devices like wheelchairs. However, with appropriate support and therapy, many maintain a high level of independence and social engagement.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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