Ataxia-Telangiectasia in Ophthalmology Treatment & Management

Updated: Jul 28, 2020
  • Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
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Treatment

Medical Care

Evaluation usually can be conducted on an outpatient basis.

Management of recurrent sinopulmonary infections may require hospital stay and intravenous antibiotics.

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Consultations

See the list below:

  • Neurology [6]

  • Genetics

  • Otorhinolaryngology

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Activity

Activity may be limited by progression of truncal ataxia.

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Prevention

The gene responsible for ataxia-telangiectasia, the ATM gene, was discovered in 1995. This gene makes a protein that activates a number of other proteins that control cell cycle, DNA repair, and cell death. There is ongoing preclinical and early clinical research on gene therapy to treat ataxia-telangiectasia and other diseases. [7]

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Long-Term Monitoring

Respiratory infections should be monitored.

Physical therapy is indicated.

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