Gaucher Disease 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.

Yoshinori Abe, MD

Yoshinori Abe, MD (Internal medicine)

Dr. Abe graduated from The University of Tokyo School of Medicine in 2015. He completed his residency at the Tokyo Metropolitan Health and Longevity Medical Center. He co-founded Ubie, Inc. in May 2017, where he currently serves as CEO & product owner at Ubie. Since December 2019, he has been a member of the Special Committee for Activation of Research in Emergency AI of the Japanese Association for Acute Medicine. | | Dr. Abe has been elected in the 2020 Forbes 30 Under 30 Asia Healthcare & Science category.

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How Ubie can help you

With an easy 3-min questionnaire, Ubie's AI-powered system will generate a free report on possible causes.

  • Trained and reviewed by 50+ doctors, our AI Symptom Checker utilizes data from 1,500+ medical centers

  • Questions are customized to your situation and symptoms

  • Gaucher Disease as well as similar diseases can be checked at the same time.

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✔︎  When to see a doctor

✔︎  What causes your symptoms

✔︎  Treatment information etc.

People with similar symptoms also use Ubie's symptom checker to find possible causes

  • Twitching

  • Fever seizures (with fever of >100.4°F / 38°C)

  • Repetitive seizures

  • Seizure with fainting

  • I have a seizure that is not symmetric

  • Enlarged liver

  • Seizures when I wake up

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Learn more about Gaucher Disease

Content updated on Jan 19, 2024

What is gaucher disease?

GM1 gangliosidosis is a genetic disorder that progressively destroys nerve cells in the brain and spinal cord. Some researchers categorize this condition into three types based on the age when symptoms first appear.

Symptoms of gaucher disease

  • Seizure

  • Seizure for the first time ever

  • Seizures within the last 1 week

  • Right hypochondriac region swelling

  • Seizure followed by a period of confusion or disorientation

  • Stomach feels bloated

  • Change in facial appearance / features

  • Child cries at night

Questions your doctor may ask to check for gaucher disease

  • Have you had a seizure?

  • Was that your first seizure ever?

  • Did you have a seizure in the past week?

  • Did you feel confused or disoriented after the seizure?

  • Do you feel that your abdomen or stomach is bloated?

Treatment for gaucher disease

There is no cure for Gaucher disease. Treatment options for types 1 and 3 include medication and enzyme replacement therapy, which is typically very effective. There is no good treatment for the brain damage of types 2 and 3.

View the symptoms of Gaucher Disease

User testimonials

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.

Yoshinori Abe, MD

Yoshinori Abe, MD (Internal medicine)

Dr. Abe graduated from The University of Tokyo School of Medicine in 2015. He completed his residency at the Tokyo Metropolitan Health and Longevity Medical Center. He co-founded Ubie, Inc. in May 2017, where he currently serves as CEO & product owner at Ubie. Since December 2019, he has been a member of the Special Committee for Activation of Research in Emergency AI of the Japanese Association for Acute Medicine. | | Dr. Abe has been elected in the 2020 Forbes 30 Under 30 Asia Healthcare & Science category.

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