Ataxia Telangiectasia

Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first ...1

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Symptoms of Ataxia Telangiectasia

Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first ...2

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Complications of Ataxia Telangiectasia

About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may ...3

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Causes of Ataxia Telangiectasia

Ataxia telangiectasia (A-T) is a primary immunodeficiency disease that affects a number of different organs in the body. An immunodeficiency disease is one that causes the immune system to break down, making the body susceptible to diseases. ...Source: NCI ...4

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Types of Ataxia Telangiectasia

Some types of this condition may include:5 Types of ataxia telangiectasia:

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Diagnosis of Ataxia Telangiectasia

How do I know if I'm an ATM mutation carrier? In the past, ATM mutation carriers were identified mainly because they were parents of a child with A-T. With the cloning of the ATM gene, however, physicians or cancer ...6

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Genetics of Ataxia Telangiectasia

The gene mutated in A-T, ATM (for AT-mutated), had been cloned and found to have ionizing radiation and oxidative stress-inducible protein kinase activity. Immediately after double-strand breaks, ATM activity is enhanced and it phosphorylates a plethora ...7

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Treatments: Ataxia Telangiectasia

Is there any treatment? There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive. Physical and occupational therapy help to maintain flexibility. Speech therapy is important, teaching ...8

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Research for Ataxia Telangiectasia

What research is being done? NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell ...9

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)10 ...

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References

  1. Source: NINDS (NIH): ninds.nih.gov/ disorders/ a_t/ a-t.htm
  2. ibid.
  3. ibid.
  4. Source: NCI (NIH): cancer.gov/ about-cancer/ causes-prevention/ genetics/ ataxia-fact-sheet
  5. Source: NCI Thesaurus
  6. Source: NCI (NIH): cancer.gov/ about-cancer/ causes-prevention/ genetics/ ataxia-fact-sheet
  7. Source: NINDS (NIH): ninds.nih.gov/ news_and_events/ proceedings/ drugscreening.htm
  8. Source: NINDS (NIH): ninds.nih.gov/ disorders/ a_t/ a-t.htm
  9. ibid.
  10. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ ataxia-telangiectasia

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