Ataxia-Telangiectasia Questions & Answers

Updated: Apr 22, 2019
  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
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Questions & Answers

Overview

What is ataxia-telangiectasia (A-T)?

What is the pathophysiology of ataxia-telangiectasia (A-T)?

What causes ataxia-telangiectasia (A-T)?

What is the prevalence of ataxia-telangiectasia (A-T)?

What are the racial predilections of ataxia-telangiectasia (A-T)?

What are the sexual predilections of ataxia-telangiectasia (A-T)?

At what age does ataxia-telangiectasia (A-T) typically present?

What is the prognosis of ataxia-telangiectasia (A-T)?

What is included in patient education about ataxia-telangiectasia (A-T)?

Presentation

Which clinical history findings are characteristic of ataxia-telangiectasia (A-T)?

Which physical findings are characteristic of ataxia-telangiectasia (A-T)?

What are the possible complications of ataxia-telangiectasia (A-T)?

DDX

Which conditions are included in the differential diagnoses of ataxia-telangiectasia (A-T)?

What are the differential diagnoses for Ataxia-Telangiectasia?

Workup

What is the role of lab tests in the workup of ataxia-telangiectasia (A-T)?

What is the role of genetic testing in the workup of ataxia-telangiectasia (A-T)?

What is the role of imaging studies in the workup of ataxia-telangiectasia (A-T)?

What is the role of EMG in the workup of ataxia-telangiectasia (A-T)?

Which histologic findings are characteristic of ataxia-telangiectasia (A-T)?

Treatment

How is ataxia-telangiectasia (A-T) treated?

Which specialist consultations are beneficial to patients with ataxia-telangiectasia (A-T)?

Which activity modifications are used in the treatment of ataxia-telangiectasia (A-T)?

What is included in the long-term monitoring of ataxia-telangiectasia (A-T)?