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Ataxia Telangiectasia (A-T)
What is ataxia telangiectasia (A-T)?
Ataxia telangiectasia is a rare childhood disease that affects the nervous system, immune system, and other body systems. It is an inherited disease. The symptoms of A-T often begin to show up by age 5.
How to say it
What causes A-T?
A-T is caused by changes (mutations) in a gene on chromosome 11. The gene is called the ATM gene. It helps control cell division.
A-T is an autosomal recessive disorder. This means that both parents must pass on the mutated ATM gene for their child to have the condition. People with only one ATM mutation are carriers of the disease. But they do not have any symptoms of it.
Some studies have found that people who are A-T carriers may have a higher risk for breast cancer. But this link is not clear. About 1 in 100 people in the U.S. are carriers of a single ATM gene mutation. More studies are being done to better understand this possible link.
What are the symptoms of A-T?
Symptoms of A-T can develop in early childhood. But they may not show up until the teen years or adulthood. Symptoms may include:
Poor balance and slurred speech
Lack of muscle control (ataxia). This causes an awkward gait when walking.
Tiny red spider veins (telangiectasias) in the corners of the eyes or on the ears and cheeks. These veins show up soon after the walking problem starts.
The symptoms of A-T may look like other health conditions. Make sure your child sees their healthcare provider for a diagnosis.
How is A-T diagnosed?
A-T is diagnosed only after your provider completes a detailed health history, does a physical exam, checks for symptoms, and orders special tests, including blood tests, MRI, and genetic tests.
Genetic testing is used to confirm or rule out A-T. You can choose if you want to have genetic testing done. A geneticist or genetic counselor can discuss the pros, cons, and emotional and social aspects of genetic testing with you and your family.
How is A-T treated?
There is no cure for A-T. It is managed by treating the symptoms and giving supportive care. Treatment for A-T may include:
What are possible complications of A-T?
Other problems that may occur with A-T include:
Weakened immune system
Increased risk for leukemia
Increased risk for lymphoma
Extreme sensitivity to radiation, such as from X-rays
Pulmonary disease, growth hormone deficiency, and diabetes
Higher risk of leukemia and lymphoma
Can A-T be prevented?
Families who have a known history of the disorder may want to talk with their healthcare provider about the pros and cons of genetic testing.
Living with A-T
Living with A-T is difficult for both the child and the family. Ongoing medical follow-up is critical and will help you keep your child at the highest possible functional level. Your child's healthcare providers can help identify ways that will help your child's specific situation. In general, many families with a child who has A-T have found some of the following may be helpful:
Postural drainage can sometimes help lessen respiratory distress. Your healthcare provider can teach you how to do this.
Extra care should be taken to ward off infections. Frequent hand washing, not allowing any smoking in your house, and not allowing any ill visitors can help protect your child. Always wash your hands for at least 20 seconds before and after touching your child.
Check with your healthcare provider to see if antibiotics or Immunoglobulin are indicated
Vitamin E therapy has, in some cases, been reported to provide temporary relief of some symptoms, but it can make your child toxic if not correctly used. It should be tried only under the advice and supervision of a healthcare provider.
The medicine Diazepam (Valium) may be useful in some cases to help slurred speech and involuntary muscle contractions. This medicine should be used only under the advice and supervision of a healthcare provider.
Ongoing physical therapy may help maintain muscle strength and prevent limb contractures. You and other family members can be taught how to help your child with these exercises at home.
Emotional support for parents is critical. Professional counseling may be very helpful.
Working with case managers to access community support services is often needed to help manage the financial impact of your child’s ongoing care. Ask your healthcare provider about community resources.
When should I call my healthcare provider?
Contact the healthcare provider if your child’s symptoms get worse or they have new symptoms.
Key points about ataxia telangiectasia (A-T)
Ataxia telangiectasia (A-T) is a rare childhood disease that affects the nervous system, immune system, and other body systems.
It is an inherited disease caused by a gene change (mutation).
Both parents must pass on the mutated gene for their child to have the condition.
Symptoms often begin to show up by age 5, but they can occur later.
Symptoms include slurred speech, poor balance, lack of muscle control, and tiny red spider veins in the corners of the eyes or on the ears and cheeks.
There is no cure. It is managed by treating the symptoms. Treatment may include physical therapy, occupational therapy, and genetic counseling.
Emotional support for caregivers is very important. Sometimes professional counseling is helpful.
In order to provide your child with the best quality of life possible, they will need ongoing medical follow-up.
Tips to help you get the most from a visit to your healthcare provider:
Know the reason for your visit and what you want to happen.
Before your visit, write down questions you want answered.
Bring someone with you to help you ask questions and remember what your provider tells you.
At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are and when they should be reported.
Ask if your condition can be treated in other ways.
Know why a test or procedure is recommended and what the results could mean.
Know what to expect if you do not take the medicine or have the test or procedure.
If you have a follow-up appointment, write down the date, time, and purpose for that visit.
Know how you can contact your healthcare provider if you have questions, especially after office hours or on weekends.
Online Medical Reviewer:
Joseph Campellone MD
Online Medical Reviewer:
Raymond Kent Turley BSN MSN RN
Online Medical Reviewer:
Rita Sather RN
Date Last Reviewed:
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