What Is Ataxia-Telangiectasia?

Table of Contents
View All
Table of Contents

Ataxia-telangiectasia (A-T) is a rare genetic disorder affecting around one in 40,000 to one in 100,000 Americans. It's caused by genetic mutations that are passed down from parent to child.

A-T affects a range of body systems, including the nervous system and immune system. Personal risk factors for A-T depend on your genetics. People with A-T are also at risk for various types of cancers.

An illustration with information about coping with ataxia-telangiectasia

Illustration by Adriana Sanchez for Verywell Health

Ataxia-Telangiectasia Symptoms

Symptoms of A-T appear in infancy and very early childhood. During these developmental years, parenting adults will see signs such as abnormal head swaying and difficulties in swallowing, chewing, breathing, speaking, and walking in their child. These are symptoms of neurological damage and ataxia (loss of coordination of movement).

People with A-T have typical intelligence, but writing difficulties and slurred speech make communicating a challenge. Tics, jerky movements, and shaking make everyday activities additionally difficult.

"Telangiectasia" refers to blood vessels being dilated (widened or more open than usual). This appears as exposed tiny vessels on the surface of skin areas, especially those areas exposed to the sun. Permanent bloodshot eyes are a characteristic feature.

A-T can lead to a variety of complications. It impairs the immune system, so it increases the risk of respiratory infections. It causes a growth hormone deficiency, so growth can be impaired. Many people with A-T also show premature aging.

Cancer Risk

The genetic mutation that results in A-T also increases a person's risk for developing certain cancers, especially leukemia and lymphoma, but also including breast cancer.

This is because the affected gene results in the body being unable to properly remove damaged cells or prevent them from reproducing. Some of these damaged cells may be cancerous.


Ataxia-telangiectasia is caused by a genetic mutation (ATM) that is inherited, or passed down from generation to generation. Just because the genetic mutation may exist in your family gene line doesn't mean your biological children will have A-T.

Mutations need to be on both copies of each gene for the condition to develop in a child. If only one biological parent has the genetic mutation, then their child will be considered a carrier of the gene.

Parents, siblings, and children of a person with A-T (first-degree relatives) have a 50% chance of inheriting the single gene mutation and becoming an ATM gene carrier.

If two ATM carriers have a biological child, there is a 25% chance the child will have A-T. If you have concerns, consider talking to your doctor about the pros and cons of genetic testing.


The process for getting a diagnosis of A-T will require a few steps. Your doctor will evaluate your medical history (patient history) and order lab tests to check your general health and rule out other neurological conditions.

Brain imaging through magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) allow specialists called neurologists to see inside your brain and examine your blood vessels for telangiectasia.

Blood tests can look for genetic characteristics of A-T, including chromosomal karyotyping (showing increased abnormalities) and testing for the ATM protein (which will be low or absent).

Since A-T is a subtype of the movement disorder known as ataxia, the differential diagnosis (a way for doctors to distinguish between two or more conditions) may consider other forms of ataxia like Friedreich's ataxia and Marie's ataxia.


There is no specific treatment that can cure A-T. There are many treatment options when it comes to relieving certain symptoms, though. A patient with A-T may need to try different therapies and work with many types of medical and health professionals. Genetic counseling may also be considered, but it is not recommended in every case.

Treatment options include off-label prescriptions, meaning there is no approved medication for A-T treatment. Prescription medications also can be geared toward maintaining or reducing specific symptoms like tremors or targeted toward the immune system or metabolic system.

Working with a physical therapist to maintain muscle strength and working with a dietitian to learn how to consume enough calories and get all your necessary nutrients is also part of a full treatment plan.

In cases in which swallowing has become risky due to aspiration (the potential for food and drink to go into the lungs), a feeding tube known as a gastronomy tube (G-tube) may be an option. G-tubes can reduce the risk of lung damage from aspiration.

Whether it comes to treating infections that can come with having a compromised immune system or treating issues related to speech impairment, the best course of action always begins with talking to a doctor about the pros and cons.


The rareness of A-T makes long-term large-group studies rather difficult to achieve.

A 2006 report looked at two different studies, including:

  • One was a prospective study (following people after diagnosis) done at Ataxia Telangiectasia Clinical Center at Johns Hopkins Hospital in Baltimore, which found a median survival of 25 years.
  • The other was a retrospective study (looking back at cases after death has occurred) from the Ataxia Telangiectasia Children's Project, which found a median survival of 19 years.

There was, however, a wide range of results in both of these studies.

A 2011 retrospective cohort study found a 20-year survival rate of 53.4%. That study noted the prognosis for the condition had not changed since 1954. The prognosis for A-T is poor largely due to complications associated with respiratory infections and cancer.

The high likelihood of additional illness or chronic condition also complicates matters. Every patient and case is unique.

In the Johns Hopkins cohort, nine patients apparently died of complications of chemotherapy or cancer, seven of pneumonia, four had significant acute neurological deterioration associated with multiple central nervous system telangiectatic vascular abnormalities, two died from sudden unknown causes, and two died from complications of chronic lung disease.

Medical Advances

Prognosis for A-T can improve with research and advances in care. Consider asking your doctor to look into the latest clinical trials and latest treatment options. Keep in mind the medical community is making strides daily.


Coping with a chronic and progressive illness is best done with a strong support network that includes both individuals you trust and medical professionals you can turn to.

While no two people or families will cope in exactly the same way, the following efforts may be helpful with progressive ataxia:

  • Getting a diagnosis
  • Working with sensitive health professionals
  • Getting into contact with others in a similar position (for example, people of a similar age with ataxia, other parents, or local support)
  • Carrying a card explaining the effects of ataxia (for instance, to explain that people are not necessarily drunk if they are unsteady on their feet and slur their words)
  • Using the Internet to connect with people when mobility and speech are challenged
  • Using a wheelchair for increased mobility and independence

Mental Health Support

Coping with A-T—whether you have it or love someone who has it—is a daily activity that can be overwhelming when trying to manage on your own.

If you or someone you know is struggling to cope or is showing signs of declining mental health, including becoming more isolated or more easily angered, it may be time to seek additional support.

Mental health professionals such as family counselors or therapists trained in coping with chronic and progressive illness may be of great support and comfort.


Ataxia-telangiectasia is a rare genetic condition often diagnosed in early childhood. Its effects on the nervous system result in difficulties with coordinating movement (ataxia). Dilated blood vessels (telangiectasia) are also prominent.

A-T is caused by a gene mutation that is passed on by both biological parents. Treatment is to help prevent respiratory infections and reduce other symptoms. However, there is no cure. Many people with A-T have a shortened lifespan.

A Word From Verywell

Symptoms or a diagnosis of ataxia-telangiectasia can be scary. But you and your family are not alone in this. There is a rich and diverse team of medical professionals who want to help make living with A-T as comfortable and fulfilling as possible.

10 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
  1. American Society of Clinical Oncology. Ataxia-telangiectasia.

  2. Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016 Nov 25;11(1):159. doi:10.1186/s13023-016-0543-7

  3. Levy A, Lang AE. Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations [published correction appears in Mov Disord. 2018 Aug;33(8):1372]. Mov Disord. 2018;33(8):1238-1247. doi:10.1002/mds.27319

  4. National Organization for Rare Disorders. Ataxia telangiectasia.

  5. American Cancer Society. Breast cancer risk factors you cannot change.

  6. Johns Hopkins. Magnetic resonance imaging (MRI) of the brain and spine.

  7. Immune Deficiency Foundation. Ataxia-telangiectasia.

  8. Crawford TO, Skolasky RL, Fernandez R, Rosquist KJ, Lederman HM. Survival probability in ataxia telangiectasiaArch Dis Child. 2006;91(7):610-611. doi:10.1136/adc.2006.094268

  9. Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators. Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi:10.1016/j.jaci.2011.03.052

  10. Box H, Bonney H, Greenfield J. The patient's journey: the progressive ataxiasBMJ. 2005 OCt 29;331(7523):1007-1009. doi:10.1136/bmj.331.7523.1007

By Michelle Pugle
Michelle Pugle, BA, MA, is an expert health writer with nearly a decade of contributing accurate and accessible health news and information to authority websites and print magazines. Her work focuses on lifestyle management, chronic illness, and mental health. Michelle is the author of Ana, Mia & Me: A Memoir From an Anorexic Teen Mind.