Telangiectasia Ataxia Quiz
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Reviewed By:
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
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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
Diseases related to Telangiectasia ataxia
Reviewed By:
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
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Seiji Kanazawa, MD, PHD
Obstetrics and gynecology (OBGYN)
National Center for Child Health and Development, Japan