Telangiectasia Ataxia Quiz

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Reviewed By:

Benjamin Kummer, MD

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

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.

From our team of 50+ doctors

Content updated on Jan 19, 2024

Following the Medical Content Editorial Policy

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Hard to walk

Rashes

Choking on saliva/spit

Swallowing difficulties

Slurred speech

Cognitive delay

Speech not fluent

Not seeing your symptoms? No worries!

How Ubie Can Help You

With a free 3-min Telangiectasia Ataxia quiz, powered by Ubie's AI and doctors, find possible causes of your symptoms.

This questionnaire is customized to your situation and symptoms, including the following personal information:

  • Biological Sex - helps us provide relevant suggestions for male vs. female conditions.

  • Age - adjusts our guidance based on any age-related health factors.

  • History - considers past illnesses, surgeries, family history, and lifestyle choices.

Your symptoms

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Your report

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Your personal report will tell you

✔  When to see a doctor

✔︎  What causes your symptoms

✔︎  Treatment information etc.

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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.

Typical Symptoms of Telangiectasia Ataxia

Diagnostic Questions for Telangiectasia Ataxia

Your doctor may ask these questions to check for this disease:

  • Do you struggle with pronouncing words correctly?
  • Is walking difficult for you?
  • Is swallowing difficult for you (e.g. with food or water)?
  • Have you noticed any recent changes in your facial features?
  • Do you drool due to difficulty swallowing saliva?

Treatment of Telangiectasia Ataxia

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

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Telangiectasia Ataxia?

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Symptoms Related to Telangiectasia Ataxia

Diseases Related to Telangiectasia Ataxia

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My experience was great. I was worried, but the symptom checker helped me narrow down what it might be. I feel a little relieved compared to when I first started, and it gives me a starting point for what my symptoms could mean.

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The questions asked and possible causes seemed spot on, putting me at ease for a next-step solution.

(Sep 26, 2024)

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Female, 40s

I was actually very impressed with the results it provided because, although I didn’t mention it during the questionnaire because I thought it was unrelated, it suggested I may have something I’ve actually been diagnosed with in the past.

(Sep 25, 2024)

Reviewed By:

Benjamin Kummer, MD

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

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.

From our team of 50+ doctors

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Which is the best Symptom Checker?

Ubie’s symptom checker demonstrated a Top-10 hit accuracy of 71.6%, surpassing the performance of several leading symptom checkers in the market, which averaged around 60% accuracy in similar assessments.

Link to full study:

https://www.medrxiv.org/content/10.1101/2024.08.29.24312810v1