What Is Ataxia-Telangiectasia?
Ataxia-telangiectasia is a genetic condition that leads to:
- unsteady walking (ataxia)
- uncontrolled body movements
- a weak immune system
- clusters of small blood vessels on the eyes and skin (telangiectasias)
What Are the Signs & Symptoms of Ataxia-Telangiectasia?
Children with ataxia-telangiectasia (uh-TAK-see-uh tel-an-jee-ek-TAY-zhuh) have uncoordinated movements that get worse over time. Parents may first notice unsteadiness when their toddler begins to walk. The child may sway when sitting or standing.
Often, the telangiectasias appear during a child's preschool years. But not everyone with the condition will have these.
As they get older, children with ataxia-telangiectasia have trouble walking, talking, chewing, and swallowing. They may have:
- poor hand coordination
- balance problems
- trouble reading because they can’t control their eye movements
- muscle jerks and twitches
Most children will need a wheelchair when they are teenagers.
Other problems can happen, including:
- poor growth and late puberty
- sinus infections and lung infections
- coughing and breathing problems
- type 2 diabetes
- an increased risk for some types of cancer, especially blood (leukemia) and immune system (lymphoma) cancers
What Causes Ataxia-Telangiectasia?
Ataxia-telangiectasia happens when a change (mutation) in the gene that makes a protein called ATM protein. Children born with the condition inherited two changed ATM genes, one from each parent.
A child might have ATM protein that doesn’t work as it should or no ATM protein at all. ATM protein helps repair damaged DNA. DNA holds the instructions that keep cells alive and working as they should. Without the ATM protein they need, cells in the part of the brain (the cerebellum) that controls balance and movement die.
How Is Ataxia-Telangiectasia Diagnosed?
Doctors might suspect ataxia-telangiectasia when a child has an unsteady walk, unusual eye or body movements, and many infections or telangiectasias. To diagnose it, doctors may order:
- blood tests
- genetic tests
- MRI scans of the brain
Some people have small amounts of ATM protein and milder symptoms. Mild types of ataxia-telangiectasia usually are diagnosed later in life.
If parents know they carry the AT gene, or a family member has ataxia-telangiectasia, doctors can do genetic testing to diagnose it before a baby is born.
How Is Ataxia-Telangiectasia Treated?
Children with ataxia-telangiectasia are cared for by a health care team. They include neurologists, immune specialists, lung specialists, dietitians, and therapists. There are no specific treatments for the condition. But doctors want to identify and treat problems early. They will:
- treat infections with antibiotics
- give intravenous gamma globulin for children who get a lot of infections
- check lung function and treat lung symptoms
- refer a child to a feeding specialist to help prevent choking
- keep track of growth and make sure a child takes in enough calories
- watch for signs or symptoms of cancer (such as swollen glands, easy bruising, or weight loss)
How Can Parents Help?
Most kids with ataxia-telangiectasia will need help in school. They’ll face challenges with reading, writing, talking, and getting around school. Talk to school staff about getting an individualized education program (IEP) for your child, and any other special help needed.
What Else Should I Know?
Radiation damages DNA that can’t be repaired well without the ATM protein. So children with the condition should not get X-rays or CT scans unless absolutely necessary.
To learn how ataxia-telangiectasia runs in families, talk to a genetic counselor. They can also help you find out about testing other family members.
Get support for yourself and family. A counselor can help you handle difficult emotions and stress. It also can help to talk to other parents whose children have the condition. Ask your child’s care team about support groups. You also can find more information and support online at:
- Assistive Devices: Walking and Mobility (Slideshow)
- Gene Changes (Mutations)
- Genetic Counseling
- Genetic Testing
- Occupational Therapy
- Physical Therapy
- Speech-Language Therapy