Ataxia-Telangiectasia Treatment & Management

  • Author: Sergiusz Jozwiak, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 24, 2012
 

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,[27, 34] whereas others advise reduced doses, especially for alkylating agents.[35] 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.[23, 30, 36] 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.[36]
  • Desferrioxamine has been shown to increase genomic stability of ataxia-telangiectasia cells and, therefore, may present a promising tool in ataxia-telangiectasia treatment.[37]
  • 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.[38]
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Consultations

  • 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.
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Activity

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.

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Contributor Information and Disclosures
Author

Sergiusz Jozwiak, MD, PhD  Head, Professor, Department of Child Neurology, The Children's Memorial Health Institute of Warsaw, Poland

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

Disclosure: Novartis Honoraria Speaking and teaching

Coauthor(s)

Camila K Janniger, MD  Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

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

Disclosure: Nothing to disclose.

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

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, American Academy of Pediatrics, Society for Investigative Dermatology, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

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

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

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

Disclosure: Nothing to disclose.

Glen H Crawford, MD  Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital

Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

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

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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