Gaucher Disease or Gangliosidosis 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.
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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Gaucher disease or gangliosidosis as well as similar diseases can be checked at the same time.
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People with similar symptoms also use Ubie's symptom checker to find possible causes
Stomach bloating after eating
Rapid increase in abdominal circumference
Twitching
Rapid increase in waist circumference
Fever seizures (with fever of >100.4°F / 38°C)
Bloated belly
Stomach has a lot of gas
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Learn more about Gaucher disease or gangliosidosis
Content updated on Sep 20, 2022
What is gaucher disease or gangliosidosis?
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 or gangliosidosis
Seizures within the last 1 week
Stomach feels bloated
Seizure for the first time ever
Seizure
Seizure followed by a period of confusion or disorientation
Questions your doctor may ask to check for gaucher disease or gangliosidosis
Your doctor may ask these questions to diagnose gaucher disease or gangliosidosis
Have you had a seizure within the last week?
Do you feel that your abdomen (stomach) is bloated or has a lot of gas?
Was that your first ever seizure (fit)?
Have you had a seizure?
Did you feel confused or disoriented for a while after having the seizure?
Treatment for gaucher disease or gangliosidosis
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 or gangliosidosis
Diseases related to Gaucher disease or gangliosidosis
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.
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