Telangiectasia Ataxia Quiz
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Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
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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People with similar symptoms also use Ubie's symptom checker to find possible causes
Walking as if dragging
Hard to swallow saliva
Abnormal gait
Food stuck in my throat
Shuffle when I walk
Difficulty walking in a straight line with one foot directly in front of the other
Nasal regurgitation
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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 starting in childhood, typically before age 5. It causes progressive difficulty with coordinating movements (ataxia), increased risk of cancer and infections. The disorder is due to mutations in the ATM gene, which controls the production of an enzyme that regulates cell division after 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 includes physical therapy, addressing infections, and improving quality of life.
View the symptoms of Telangiectasia ataxia
Diseases related to Telangiectasia ataxia
User testimonials
Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
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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Dale Mueller, MD
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