About Ataxia-Telangiectasia
The ATM gene makes a protein that acts as a sensor for broken DNA. When a strand breaks, ATM activates the machinery that repairs it and pauses cell division until the repair is done. Without it, damage accumulates. The cells that suffer most are the Purkinje cells of the cerebellum, the part of the brain that coordinates movement, and they die off progressively through childhood. That is the ataxia: gait, balance, speech, eye movements and hand control all deteriorate as the cerebellum shrinks, even though muscle strength itself is preserved for a long time.
The same defect explains everything else about the disease. Immune cells that need to rearrange their own DNA to make antibodies do it poorly, so most people with A-T have low antibody levels and get repeated respiratory infections, which are the leading cause of death. Because damaged DNA is not repaired, the risk of cancer, above all leukemia and lymphoma, is many times higher than in the general population, and the same fragility makes patients dangerously sensitive to radiation, including standard X-ray doses and some chemotherapy. Blood levels of alpha-fetoprotein are raised in nearly everyone with A-T, which makes it a useful screening test when a child's unsteadiness has no obvious explanation. Genetic testing of ATM confirms the diagnosis.
Common Symptoms of Ataxia-Telangiectasia
Recognizing the signs of Ataxia-Telangiectasia early can lead to faster diagnosis and better outcomes. Symptoms may vary in severity from person to person. If you or a loved one are experiencing any of the following, consider speaking with a specialist.
- Unsteady walking and poor balance appearing before age 5, after a normal start
- Slurred speech and difficulty moving the eyes from side to side (oculomotor apraxia)
- Involuntary jerking movements and tremor that worsen over time
- Tiny dilated blood vessels (telangiectasias) on the whites of the eyes and skin, usually by age 5 to 8
- Frequent sinus and lung infections from a weakened immune system
- Difficulty swallowing and slowed growth in later childhood
Who Ataxia-Telangiectasia Affects
A-T is autosomal recessive: both parents carry one non-working copy of ATM without symptoms, and each pregnancy has a 1 in 4 chance of an affected child. It affects boys and girls equally and every ethnic group. Toddlers usually walk on time and then begin to wobble, and the diagnosis often takes years because early A-T looks like cerebral palsy. Most children need a wheelchair by around age 10. Life expectancy varies widely and has lengthened with better infection and cancer care, but most people with A-T live into early adulthood rather than beyond it.
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FDA-Approved Treatments for Ataxia-Telangiectasia
There is currently 1 FDA-approved medication for Ataxia-Telangiectasia. These therapies represent the current standard of care and may be used alongside or compared against investigational treatments in active clinical trials.
Source: openFDA drug labeling data. This list may not include all treatments. Always consult your doctor.
Help Paying for Ataxia-Telangiectasia Treatment
Charity funds and drugmaker programs for Ataxia-Telangiectasia, checked at the source.
Side Effect Explorer
Real-world side effect reports from the FDA Adverse Event Reporting System (FAERS). Includes both FDA-approved drugs and investigational therapies from active clinical trials. Click any drug to see what patients reported.
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Genetic Testing
Genetic testing can confirm a diagnosis, guide treatment decisions, and identify family members who may be at risk.
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Trusted Ataxia-Telangiectasia Resources
Reputable organizations and medical references for learning more about Ataxia-Telangiectasia, including disease registries, foundation resources, and clinical guidelines.