Ataxia telangiectasia
What is Ataxia telangiectasia?
Ataxia telangiectasia is a rare genetic disorder that affects multiple body systems. It primarily impacts the nervous system, immune system, and increases cancer risk. The condition gets its name from two key features: ataxia refers to poor muscle control and coordination, while telangiectasia describes the tiny red spider veins that appear on the skin and eyes.
This disorder is inherited in an autosomal recessive pattern. This means a child must receive one defective gene from each parent to develop the condition. The condition is caused by mutations in the ATM gene, which normally helps repair damaged DNA and control cell growth. Without a working ATM gene, cells cannot properly fix DNA damage, leading to problems throughout the body.
Ataxia telangiectasia is progressive, meaning symptoms typically worsen over time. It usually appears in early childhood, often between ages 1 and 4. The condition affects approximately 1 in 40,000 to 100,000 people worldwide. Early detection through blood testing can help families manage symptoms and plan appropriate care.
Symptoms
- Poor balance and coordination that worsens over time
- Slurred speech and difficulty forming words
- Involuntary eye movements or trouble controlling eye movement
- Small red spider veins on the skin and whites of the eyes
- Frequent infections due to weakened immune system
- Slow growth and delayed physical development
- Difficulty walking or moving smoothly
- Drooling or trouble swallowing
- Sensitivity to radiation exposure
- Premature graying of hair
Symptoms typically appear when children begin walking, as balance and coordination problems become noticeable. Some symptoms may not develop until later in childhood or adolescence. The progression and severity of symptoms can vary between individuals with the condition.
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Causes and risk factors
Ataxia telangiectasia is caused by mutations in the ATM gene, which provides instructions for making a protein that helps control cell division and DNA repair. When this gene does not work properly, cells accumulate DNA damage and cannot function normally. This leads to the breakdown of nerve cells in the cerebellum, the part of the brain that controls movement and balance. The condition is inherited when both parents carry one copy of the mutated gene, even though they show no symptoms themselves.
Risk factors include having a family history of the disorder or being born to parents who are carriers of the ATM gene mutation. Carriers are more common in certain populations due to founder effects. The condition affects males and females equally. Because it is genetic, lifestyle factors do not cause ataxia telangiectasia, but early identification of carrier status through genetic counseling can help families make informed reproductive decisions.
How it's diagnosed
Ataxia telangiectasia is diagnosed through a combination of clinical evaluation, genetic testing, and blood tests. Doctors look for characteristic symptoms like movement problems and spider veins. Blood tests play an important role in diagnosis by measuring alpha fetoprotein levels, which are often elevated in people with this condition. Other blood tests check immunoglobulin levels and lymphocyte counts, as many patients have immune system deficiencies.
Rite Aid offers alpha fetoprotein testing as an add-on to our flagship health panel. This tumor marker can help identify elevated AFP levels that may indicate ataxia telangiectasia. Genetic testing confirms the diagnosis by identifying mutations in the ATM gene. Imaging studies of the brain may show shrinkage of the cerebellum. Early and accurate diagnosis helps families access appropriate medical care and support services.
Treatment options
- Physical therapy to maintain mobility and muscle strength
- Speech therapy to address communication and swallowing difficulties
- Occupational therapy to help with daily living activities
- Immunoglobulin replacement therapy for immune deficiencies
- Antibiotics to treat and prevent respiratory infections
- Regular cancer screening due to increased cancer risk
- Avoidance of radiation exposure, including X-rays when possible
- Nutritional support to ensure adequate calorie and nutrient intake
- Assistive devices like wheelchairs or walkers as mobility declines
- Coordination of care with multiple specialists including neurologists and immunologists
Need testing for Ataxia telangiectasia? Add it to your panel.
- Simple blood draw at your nearest lab
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Frequently asked questions
The first signs usually appear between ages 1 and 4 when children start walking. Parents often notice poor balance, frequent stumbling, and trouble with coordination. Children may walk with an unsteady gait or have difficulty sitting upright. Speech may become slurred as the condition progresses.
Yes, blood tests can support the diagnosis of ataxia telangiectasia. Alpha fetoprotein levels are elevated in about 95% of people with this condition. Blood tests also reveal low immunoglobulin levels and reduced lymphocyte counts. Genetic testing of blood samples confirms the diagnosis by identifying ATM gene mutations.
Yes, ataxia telangiectasia is inherited in an autosomal recessive pattern. A child must inherit one defective ATM gene from each parent to develop the condition. Parents who are carriers have one normal gene and one mutated gene, so they do not show symptoms. When both parents are carriers, each pregnancy has a 25% chance of producing an affected child.
Life expectancy varies widely depending on the severity of symptoms and complications. Many people with ataxia telangiectasia live into their teens or twenties. Some individuals survive into their thirties or beyond with good medical care. The leading causes of early death are usually respiratory infections or cancer.
The ATM gene mutation affects the development and function of the immune system. Many people with this condition have low levels of immunoglobulins, the antibodies that fight infections. The thymus gland, which produces immune cells, may be underdeveloped. This weakened immune system makes respiratory and sinus infections more common and severe.
The spider veins, called telangiectasias, are caused by widened blood vessels near the skin surface. They typically appear between ages 5 and 8. These small red veins are most visible on the whites of the eyes, ears, cheeks, and inside of the elbows and knees. While noticeable, they do not usually cause medical problems.
There is currently no cure for ataxia telangiectasia. Treatment focuses on managing symptoms and preventing complications. Researchers are studying potential therapies including gene therapy and drugs that might slow disease progression. Early intervention with physical and speech therapy can help maintain function and quality of life.
People with ataxia telangiectasia have extreme sensitivity to radiation because their cells cannot properly repair DNA damage. Even standard X-ray doses can cause severe reactions. Radiation exposure also significantly increases the already elevated cancer risk. Medical imaging should use alternatives like MRI or ultrasound whenever possible.
People with ataxia telangiectasia have a significantly increased risk of cancer, particularly lymphomas and leukemias. These blood and lymph system cancers account for the majority of cancer cases. The risk is up to 1,000 times higher than in the general population. Regular cancer screening and monitoring are essential parts of medical care.
Families can work with genetic counselors to understand their reproductive options. Prenatal testing through amniocentesis or chorionic villus sampling can detect the condition during pregnancy. Preimplantation genetic diagnosis allows embryo screening before pregnancy through in vitro fertilization. Early diagnosis helps families access medical care, therapies, and support networks from the beginning.