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Ataxia-Telangiectasia Treatment & Management

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
Updated: Jun 09, 2016

Medical Care

Although no specific treatment is available, several features of ataxia-telangiectasia are accessible to active therapy. This applies especially to infections.

The life span of patients with ataxia-telangiectasia clearly has been prolonged by antibiotic treatment. Prevention of infections by regular injection of immunoglobulins is considered useful. Fetal thymus implants and stimulants of the immunologic system have given inconclusive results.

Treatment of neurologic manifestations is disappointing. Beta-adrenergic blockers may improve fine motor coordination in some cases.

The use and doses of radiation therapy and chemotherapy are controversial. Some reports indicate that standard-dose chemotherapy should be given to each patient with ataxia-telangiectasia with lymphoid malignancies,[36, 44] whereas others advise reduced doses, especially for alkylating agents.[45] According to some references, bleomycin, actinomycin D, and cyclophosphamide should be avoided.

Regular surveillance of heterozygotes for cancer should be part of family management. ATM heterozygosity was reported to be a risk factor for breast and lung cancers.[29, 39, 46] ATM carriers are also suggested to be more vulnerable at X-radiation, as in many cases breast cancer occurrence was preceded by x-ray exposure.[46]

Desferrioxamine has been shown to increase genomic stability of ataxia-telangiectasia cells and, therefore, may present a promising tool in ataxia-telangiectasia treatment.[47]

Concerning the role of increased oxidative stress in ataxia-telangiectasia pathophysiology, several clinical trials based on antioxidants in ataxia-telangiectasia patients have been constructed and are currently underway.[48]



Provide genetic counseling to all patients with ataxia-telangiectasia and their family members.

Consult a neurologist, a cardiologist, and an endocrinologist as determined by the patient's history and physical examination.

Rehabilitation and adequate educative support are always necessary. Physical therapy is useful in maintaining good muscular strength, preventing limb contractures, and learning techniques of falling to avoid injury. Occupational therapy helps to develop functional adaptions in the activities of daily living. Speech therapy may be useful in improving articulation and in increasing voice volume.



Daily participation (to tolerance) in a structured physical fitness program, which may include swimming, use of a special bicycle, and graduated weight lifting, is useful in maintaining good muscular strength and preventing limb contractures and, thus, may postpone confinement to a wheelchair.



Early death is frequently due to pulmonary disease, but malignancies are also a common cause. The incidence of malignancy is 60-300 times higher than in healthy persons, and, on autopsy report, 49% of cases had malignant tumors. The most common tumors are lymphoreticular malignancies, especially non-Hodgkin lymphomas, but other kinds of tumors also occur. Malignancies are also more common in obligate heterozygotes than in the general population.


Long-Term Monitoring

Patients with ataxia-telangiectasia should undergo regular examinations for early cancer detection.

Contributor Information and Disclosures

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.


Sergiusz Jozwiak, MD, PhD Professor and Head of Pediatric Neurology, Warsaw Medical University, Poland

Sergiusz Jozwiak, MD, PhD is a member of the following medical societies: Sigma Xi

Disclosure: Received honoraria from Novartis for speaking and teaching.

Tomasz Kmiec, MD Adjunct Senior Assistant, Department of Child Neurology, Children's Memorial Health Institute of Warsaw, Poland

Disclosure: Nothing to disclose.

Ewa Bernatowska, MD Head, Department of Immunology, The Children's Memorial Health Institute of Warsaw, Poland

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Albert C Yan, MD Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

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Face of a boy with ataxia-telangiectasia. Apparent ocular telangiectasia.
Close-up view of advanced telangiectasia of the bulbar conjunctiva.
Chest MRI showing a hyperintense lesion in the right mediastinum corresponding to lymphoma.
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