All About Ataxia Telangiectasia

Medically Reviewed By Heidi Moawad, M.D.
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Ataxia telangiectasia is a rare inherited childhood disorder. It affects a few organ systems, but neurological symptoms are the most obvious, especially at the early stages of the disease. Ataxia telangiectasia causes skin changes and immune deficiency. It also increases the likelihood of developing cancers, such as leukemia and lymphoma. There is no cure for it, but various forms of therapy can help manage symptoms and treat complications.

This article explains ataxia telangiectasia, including the symptoms, causes, and treatment.

What is ataxia telangiectasia?

illustration of body areas afffected in ataxia telangiectasia
Ataxia telangiectasia. Medical illustration by Mekhi Baldwin.

Ataxia telangiectasia is a multisystem disorder. It causes progressive degeneration in the cerebellum. This area of the brain coordinates movements to keep them smooth and fluid. The cerebellum also plays a role in the fluidity of speech — smooth speech at a steady rate. As the condition worsens, it can affect other areas of the brain. It also affects other organs and body systems.

“Ataxia” describes a lack of coordination or having uncoordinated movements. There are many types of ataxia. In ataxia telangiectasia, it happens because the cerebellum degenerates. It is noticeable early in life when children begin to walk.

“Telangiectasia” refers to tiny, spider-like red veins on the skin. These veins are almost always present in children with the disorder. However, they usually do not show up until around age 6.

Ataxia telangiectasia is rare. Estimates say it occurs from 1 in 40,000 to 1 in 100,000 births. It affects males and females equally.

Learn about cerebellar ataxia and telangiectasia.

What are the symptoms of ataxia telangiectasia?

Ataxia is typically the first symptom of the disorder. Toddlers learning to walk have an unusually unstable, unsteady, or staggering gait. They may also have trunk instability that makes it hard for them to sit without wobbling. The ataxia progresses, and children often need a wheelchair by age 10.

Other symptoms can include:

  • atypical body movements, such as twisting or writhing
  • difficulty swallowing, which can lead to drooling or choking
  • muscle weakness
  • nystagmus, which is a bouncing or jerking-like movement of the eyes
  • vision problems
  • premature graying of the hair
  • irregular speech rhythm
  • repeated respiratory infections

Telangiectasias, or spider veins, are the other main hallmark of the disorder. These most often appear in the corners of the eyes and on the ears and cheeks.

What does ataxia telangiectasia do to the body?

Ataxia telangiectasia results from mutations in the ATM (ataxia telangiectasia mutated) gene.

The ATM protein is mainly responsible for helping cells mend damage to their DNA. ATM gene mutations reduce the function of the ATM protein. With a deficiency of ATM protein, cells have a higher incidence of mutations or errors in their DNA.

This has effects throughout the body. The cerebellum in the brain is very sensitive to problems with the ATM protein, accounting for movement and other neurological symptoms.

In about 70% of children, immunodeficiency develops. This leads to increased respiratory infections, which can sometimes be life threatening.

About 35% of children will develop cancer. The most frequent ones are acute lymphocytic leukemia and lymphoma. Solid tumors, such as brain and stomach cancers, are also common in children with the disorder.

Other effects of the condition can include:

Intelligence is usually normal or above normal for children with ataxia telangiectasia.

How does ataxia telangiectasia inheritance occur?

Ataxia telangiectasia follows an autosomal recessive inheritance pattern. This means that a child has to inherit two copies of the mutated ATM gene — one from each parent — to have the disorder. Parents with only one copy of the mutated gene are carriers but do not have the disorder.

If only one parent is a carrier, their children will not develop the disorder. However, each child has a 50% chance of being a carrier.

About 1% of the population carries the ATM gene mutation responsible for ataxia telangiectasia. Worldwide, ataxia telangiectasia occurs in 1 in 40,000 to 100,000 people.

How is ataxia telangiectasia diagnosed?

To diagnose ataxia telangiectasia, doctors will take a medical history and perform an exam. If doctors suspect ataxia telangiectasia, testing is necessary, including:

  • blood tests to check immune system antibody levels and level of alpha-fetoprotein, a potential marker for certain genetic conditions present at birth
  • brain MRI to look at the cerebellum
  • genetic testing, which will give a definitive diagnosis

Other testing may be necessary once doctors confirm the diagnosis.

How is ataxia telangiectasia managed?

Currently, there is no cure for ataxia telangiectasia and no treatment to slow its progression.

Instead, treatment is symptomatic, meaning it addresses the symptoms. This will vary depending on the symptoms a child is having and what other problems develop.

It takes a team of medical professionals, including doctors and therapists, to manage the needs of someone with ataxia telangiectasia. These needs change as the child grows and the disease progresses.

Neurological symptoms

For ataxia and other neurological symptoms, various forms of therapy can help. This includes ongoing:

  • Physical therapy: This can include exercises, manual therapy, and techniques to build and maintain strength, balance, fitness, and endurance. Learn about general physical therapy techniques.
  • Occupational therapy (OT): OT includes strategies to help the child realize and use their highest level of function. Therapy might include teaching the child how to use an assistive or adaptive device to compensate for a deficit and increase function at home and school. An example is how to use a brace or walker, but there is a wide range of aids. Learn what occupational therapists do.
  • Speech and language therapy: This may include learning how best to manage speech and alternate ways of communicating effectively. Speech therapists can also help with swallowing problems. Learn what speech-language therapists do.

Children with ataxia telangiectasia require individualized support and education plans at school. Frequent assessments will help define the specific aids necessary.

Immunodeficiency and cancer

Clinicians may prescribe antibiotics to prevent bacterial infections and immunoglobulin injections to boost the immune system. Infection control and prevention are key. Start with these tips:

  • Wash your child’s hands frequently when they are young and help them as they age.
  • Stay away from people who are sick.
  • Put a protective mask over your child’s nose and mouth when you are in crowded public places. Children younger than 2 years should not wear a face mask.
  • Stay current with available and recommended vaccines for your child’s age.

If cancers develop, standard treatments are available. However, some treatments may not be suitable for children with ataxia telangiectasia because of immune deficiency and susceptibility to cancer. This includes radiation therapy, certain chemotherapy types, and other cancer medications.

Clinicians may prescribe high doses of vitamins and antioxidants, according to the National Institute of Neurological Disorders and Stroke (NINDS).

What is the life expectancy?

Life expectancy for ataxia telangiectasia can vary with the severity of the mutations. Most people with ataxia telangiectasia live to adolescence or early adulthood, according to a systematic review. Cancer was the most common cause of death.

People with milder forms of the disorder may live into their 50s.

Ataxia telangiectasia resources

People with ataxia telangiectasia need significant assistance from a caregiver. For caregiver support, consider the following resources:

Frequently asked questions

Heidi Moawad, M.D., reviewed the following questions.

What are the early signs of ataxia? 

Usually, the early signs of ataxia are gait problems, such as an unsteady or staggering gait. This typically occurs in children as they are learning to walk. Telangiectasias, the other major feature of the disorder, often do not appear until around age 6.

Does ataxia telangiectasia worsen with age?

Yes, ataxia telangiectasia is a progressive disease. The degeneration and resulting symptoms worsen with age. Eventually, children develop severe disabilities.

Summary

Ataxia telangiectasia is a rare, inherited neurological disorder. Symptoms begin early in life. By age 10, many children will need a wheelchair. Immune system problems and cancers are common. There is no cure for the disorder. People typically live to adolescence or early adulthood.

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Medical Reviewer: Heidi Moawad, M.D.
Last Review Date: 2022 Sep 29
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THIS TOOL DOES NOT PROVIDE MEDICAL ADVICE. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. Never ignore professional medical advice in seeking treatment because of something you have read on the site. If you think you may have a medical emergency, immediately call your doctor or dial 911.
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