Gaucher Disease Quiz
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.
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.
Content updated on Mar 31, 2024
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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.
Questions are 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
Our AI
Your report
Your personal report will tell you
✔︎ When to see a doctor
✔︎ What causes your symptoms
✔︎ Treatment information etc.
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
Just 3 minutes.
Developed by doctors.
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.
Typical 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
Doctor's Diagnostic Questionson Gaucher Disease
Your doctor may ask these questions to check for this 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?
Treatmentof 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.
Think you might have
Gaucher Disease
View the symptoms of Gaucher Disease
Diseases related to Gaucher Disease
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.
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.
Think you might have
Gaucher Disease
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Dale Mueller, MD
Cardiothoracic Surgery, Vascular Surgery
Cardiothoracic and Vascular Surgery Associates