eMedicine Specialties > Dermatology > Pediatric Diseases

Ataxia-Telangiectasia: Follow-up

Author: Sergiusz Jozwiak, MD, PhD, Head, Professor, Department of Child Neurology, The Children's Memorial Health Institute of Warsaw, Poland
Coauthor(s): Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School; Tomasz Kmiec, MD, Adjunct Senior Assistant, Department of Child Neurology, Children's Memorial Health Institute of Warsaw, Poland; Ewa Bernatowska, MD, Head, Department of Immunology, The Children's Memorial Health Institute of Warsaw, Poland
Contributor Information and Disclosures

Updated: Jan 7, 2009

Follow-up

Further Inpatient Care

  • Inpatient care is needed if indicated by associated abnormalities or complications.

Further Outpatient Care

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

Complications

  • 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.

Prognosis

  • The neurologic features of ataxia-telangiectasia are relentlessly progressive. In addition to the classic early features, older patients tend to develop other signs of spinocerebellar degeneration (eg, posterior cord involvement with loss of the deep tendon reflexes, spinal muscular atrophy). Most patients are wheelchair dependent by age 10-15 years, but mild forms are not rare.

Patient Education

  • Good patient and parental education should include tactful genetic counseling and an explanation of the multisystem nature of the disease.
  • Pay special attention to the susceptibility of adult members of families with ataxia-telangiectasia to malignant neoplasms and to the importance of regular examinations for early cancer detection.

Miscellaneous

Medicolegal Pitfalls

  • Failure to provide a thorough evaluation to identify any associated anomalies is a pitfall.
  • Failure to evaluate the patient's siblings is a pitfall.
  • Failure to provide genetic counseling is a pitfall. The need for genetic counseling is implied by the autosomal recessive mode of inheritance.

Special Concerns

  • Identification of the disease gene for ataxia-telangiectasia has opened a number of avenues for research. While further mutation analysis will provide insight into the defect and genotype-phenotype correlations, it is also possible to contemplate correction of the abnormal phenotype by using full-length ATM (A-T, mutated) cDNA transfer. Full-length constructs that have been cloned and introduced into other vectors may allow for the correct radiosensitive phenotype. Insertion of the full-length cDNA into other vectors may allow for correction in vivo. Antibodies against the ATM protein are being used for screening tumor samples for loss of expression. Other approaches, such as the yeast 2-hybrid system, will be used to identify additional cellular proteins that associate with ATM.
  • Because ataxia-telangiectasia heterozygotes appear to be predisposed to a number of tumors, including breast cancer, it may become useful in the future to screen selected at-risk individuals for ATM mutations. Such persons might include members of families with a history of breast cancer or individuals who show an adverse reaction to radiation therapy. The observation that approximately 70% of mutations in the ATM gene known to date appear to encode truncated proteins with premature stop codons will allow for application of such assays as the protein truncation test, which is capable of detecting a single mutated allele. It may also be possible to carry out rapid screening with antibodies to detect ataxia-telangiectasia heterozygotes with ATM of both normal size and reduced size.
 


More on Ataxia-Telangiectasia

Overview: Ataxia-Telangiectasia
Differential Diagnoses & Workup: Ataxia-Telangiectasia
Treatment & Medication: Ataxia-Telangiectasia
Follow-up: Ataxia-Telangiectasia
Multimedia: Ataxia-Telangiectasia
References
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Further Reading

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Keywords

ataxia-telangiectasia, A-T, AT, Louis-Bar syndrome, Boder-Sedgwick syndrome

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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: Nothing to disclose.

Coauthor(s)

Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, 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.

Medical Editor

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

Pharmacy Editor

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
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: 3M Pharmaceutical Grant/research funds Other; Graceway Pharmaceuticals Grant/research funds Other

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-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.

CME Editor

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, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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