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PubMed This is a summary of 91 peer-reviewed journal articles Updated
Neurology

Ataxia-telangiectasia: A Patient Guide

At a Glance

Ataxia-telangiectasia is a rare ATM-related condition affecting coordination, immunity, and breathing, with increased sensitivity to ionizing radiation and risk of some blood cancers. Care centers on coordinated specialists, infection prevention, nutrition, and physical therapy.

Ataxia-telangiectasia (A-T) is a rare, complex genetic condition that often begins in early childhood and gradually affects multiple systems throughout the body. It is caused by changes in the ATM gene, which is responsible for providing the instructions to make a protein that acts as a “manager” for DNA repair [1][2]. Because this protein is essential for detecting and fixing damage to the body’s genetic code, absent, reduced, or altered ATM function leads to instability within cells, particularly those in the nervous system and the immune system [3][4].

The most prominent feature of the condition is a progressive difficulty with balance and coordination, known as ataxia. This often begins in the toddler years, though variant A-T may present later [1]. It slowly affects other movements over time, including eye control, fine motor skills, and speech [5]. While these neurological changes are the most visible part of A-T, the condition also impacts how the body fights infections and manages respiratory health [6][7]. Many individuals experience a weakened immune system and may have difficulty swallowing, which can lead to recurrent lung infections if not monitored carefully [8][9].

Because ATM function is altered, the body’s cells are also highly sensitive to ionizing radiation, such as that found in X-rays and CT scans [10]. This sensitivity, combined with the underlying genetic instability, increases the long-term risk of certain cancers, specifically those affecting the blood like leukemia or lymphoma [11][12]. Consequently, protecting patients from unnecessary diagnostic radiation and performing individualized, specialist-guided health screenings are fundamental parts of managing the condition safely [8].

Living with A-T requires a dedicated team of specialists—including neurologists, immunologists, and pulmonologists—who work together to provide proactive, supportive care [10]. While the condition presents significant challenges, a multidisciplinary approach focused on nutrition, physical therapy, and infection prevention can help maintain health and quality of life for as long as possible [8][13]. This guide is designed to help you navigate these various aspects of care, providing you with the evidence-based information you need to advocate for yourself or your child’s unique needs.

In this guide

6 chapters

01

Understanding the Diagnosis: Biology and Confirmation

Learn how Ataxia-Telangiectasia is confirmed, including ATM genetic testing, AFP levels, immune studies, and how age affects test results and diagnosis.

02

What to Expect: Symptoms and Disease Progression

Learn what to expect as ataxia-telangiectasia progresses, including balance problems, speech and eye-movement changes, telangiectasias, and mobility support.

03

Lung Health, Immunity, and Swallowing

Learn how ataxia-telangiectasia affects lung health through immune deficiency, silent aspiration, and weak cough, plus monitoring and airway-protection options.

04

Cancer Risk and Radiation Safety

Learn how ataxia-telangiectasia affects cancer risk and radiation safety, including safer imaging, surveillance, and specialist planning for cancer treatment.

05

Building Your Team: Multidisciplinary Care and Daily Life

Learn how ataxia-telangiectasia care teams coordinate neurologic, immune, lung, endocrine, nutrition, and rehabilitation support for daily independence.

06

Long-Term Monitoring and Warning Signs

Learn how to monitor a child with ataxia-telangiectasia, recognize emergency warning signs, follow a sick-day plan, and manage scan anxiety with support.

Common questions in this guide

What causes ataxia-telangiectasia?
Ataxia-telangiectasia is caused by changes in the ATM gene. These changes reduce or alter a protein needed to detect and repair DNA damage, which can affect the nervous and immune systems.
What symptoms can ataxia-telangiectasia cause?
Ataxia-telangiectasia often starts with progressive problems with balance and coordination in the toddler years, although some forms begin later. Over time, it may affect eye control, fine motor skills, speech, swallowing, immune function, and lung health.
Why are X-rays and CT scans a concern for someone with A-T?
Cells affected by A-T are unusually sensitive to the ionizing radiation used in X-rays and CT scans. Tell every healthcare professional about the condition so imaging can be considered carefully and avoided when it is not necessary.
How can ataxia-telangiectasia affect infections and breathing?
Ataxia-telangiectasia can weaken immune defenses, and swallowing difficulties can allow food or liquid to enter the lungs. These problems can contribute to recurrent lung infections, so proactive monitoring with the care team is important.
Which specialists should be involved in A-T care?
Care commonly involves a neurologist, immunologist, and pulmonologist working as a coordinated team. The team may also organize nutrition, physical therapy, infection prevention, and health monitoring based on the person’s needs.
What can help someone live well with ataxia-telangiectasia?
Supportive care focused on nutrition, physical therapy, infection prevention, and regular monitoring can help maintain health and quality of life. Coordinating information among specialists and identifying emotional and practical support can also help patients and families manage daily needs.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What specific steps do you recommend for coordinating communication between our different specialists?
  2. 2.Who is the main point of contact if I or my child develops a new symptom that isn't clearly a neurological or immunological issue?
  3. 3.How do we ensure that every member of the medical staff at this hospital is aware of the radiation sensitivity?
  4. 4.What are our first steps in creating a proactive monitoring schedule for lung and immune health?
  5. 5.Can you refer us to a family counselor or support network with experience in rare genetic conditions?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (13)
  1. 1

    Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite.

    Ganguly J, Bernaola MT, Goobie S, et al.

    Movement disorders clinical practice 2022; (9(2)):264-267 doi:10.1002/mdc3.13369.

    PMID: 35146067
  2. 2

    A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.

    Saeidi K, Saleh Gohari N, Mansouri Nejad SE

    Iranian journal of child neurology 2018; (12(4)):111-119.

    PMID: 30279714
  3. 3

    Phasor histone FLIM-FRET microscopy quantifies spatiotemporal rearrangement of chromatin architecture during the DNA damage response.

    Lou J, Scipioni L, Wright BK, et al.

    Proceedings of the National Academy of Sciences of the United States of America 2019; (116(15)):7323-7332 doi:10.1073/pnas.1814965116.

    PMID: 30918123
  4. 4

    Mitochondrial redox sensing by the kinase ATM maintains cellular antioxidant capacity.

    Zhang Y, Lee JH, Paull TT, et al.

    Science signaling 2018; (11(538)) doi:10.1126/scisignal.aaq0702.

    PMID: 29991649
  5. 5

    Novel ATM mutations with ataxia-telangiectasia.

    Liu XL, Wang T, Huang XJ, et al.

    Neuroscience letters 2016; (611()):112-5.

    PMID: 26628246
  6. 6

    Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.

    Zielen S, Duecker RP, Woelke S, et al.

    Journal of clinical immunology 2021; (41(8)):1878-1892 doi:10.1007/s10875-021-01090-8.

    PMID: 34477998
  7. 7

    Ataxia Telangiectasia with Giant Suprasellar Arachnoid Cyst - A Case Report and a Brief Review.

    Ashrafi MR, Nikkhah A, Heidari M, et al.

    Iranian journal of child neurology 2025; (19(2)):143-147 doi:10.22037/ijcn.v19i2.45580.

    PMID: 40231281
  8. 8

    ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.

    Bhatt JM, Bush A, van Gerven M, et al.

    European respiratory review : an official journal of the European Respiratory Society 2015; (24(138)):565-81 doi:10.1183/16000617.0066-2015.

    PMID: 26621971
  9. 9

    Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization.

    Rondon-Melo S, de Almeida IJ, Andrade CRF, et al.

    The American journal of case reports 2017; (18()):783-789 doi:10.12659/ajcr.903592.

    PMID: 28698541
  10. 10

    The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.

    Amirifar P, Ranjouri MR, Pashangzadeh S, et al.

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021; (32(6)):1316-1326 doi:10.1111/pai.13461.

    PMID: 33547824
  11. 11

    Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.

    Nakano Y, Kuiper RP, Nichols KE, et al.

    Clinical cancer research : an official journal of the American Association for Cancer Research 2024; (30(22)):5009-5020 doi:10.1158/1078-0432.CCR-24-1098.

    PMID: 39264246
  12. 12

    Ataxia telangiectasia: what the neurologist needs to know.

    Tiet MY, Horvath R, Hensiek AE

    Practical neurology 2020; (20(5)):404-414 doi:10.1136/practneurol-2019-002253.

    PMID: 32958592
  13. 13

    Functional parameter measurements in children with ataxia telangiectasia.

    Shenhod E, Benzeev B, Sarouk I, et al.

    Developmental medicine and child neurology 2020; (62(2)):207-213 doi:10.1111/dmcn.14334.

    PMID: 31468510

This page is for informational purposes only and does not constitute medical advice about ataxia-telangiectasia. Your A-T care team should guide imaging decisions, monitoring, and supportive care for you or your child.

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