Telangiectasia Ataxia Quiz

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Shohei Harase

Shohei Harase, MD (Neurology)

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Learn more about Telangiectasia ataxia

Content updated on Sep 20, 2022

What is telangiectasia ataxia?

Ataxia-telangiectasia is a rare, inherited disorder that affects the nervous system, immune system, and other body systems beginning during childhood, usually before age 5. There is progressive difficulty with coordinating movements (ataxia) , increased risk of cancer and infections. It is caused by mutations of the ATM gene which controls production of an enzyme that regulates cell division following DNA damage.

Symptoms of telangiectasia ataxia

  • Difficulty in walking

  • Difficulty swallowing food or water

  • Drooling

  • Skin abnormality

  • Difficulty pronouncing words

  • Change in facial appearance / features

  • Unable to gain weight

  • Child is developing slower than his or her peers

Questions your doctor may ask to check for telangiectasia ataxia

Your doctor may ask these questions to diagnose telangiectasia ataxia

  • Do you have any difficulty walking?

  • Do you have difficulty swallowing (e.g food or water)?

  • Do you have drooling (because you cannot swallow saliva)?

  • Do you have any skin problems?

  • Do you have difficulty pronouncing words properly?

Treatment for telangiectasia ataxia

There is no specific treatment or cure for telangiectasia ataxia. Treatment involves physical therapy, treating infections and improving quality of life.

View the symptoms of Telangiectasia ataxia

Reviewed By:

Shohei Harase

Shohei Harase, MD (Neurology)

From our team of 50+ doctors

Just 3 minutes.
Developed by doctors.

Ubie is supervised by 50+ medical experts worldwide

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