Niemann-Pick Disease Quiz
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Skin bleeding
Shortness of breath
Poor feeding
Weak
Bloating
Have nausea
Tripping over nothing
Not seeing your symptoms? No worries!
What is Niemann-Pick Disease?
Niemann-Pick disease is a rare genetic disease that affects the body's ability to break down fat (cholesterol and lipids) within cells, causing these cells to malfunction and eventually die. The brain, nerves, liver, spleen, bone marrow, and, in severe cases, the lungs, can all be affected by Niemann-Pick disease.
Typical Symptoms of Niemann-Pick Disease
- Increased tendency to trip and fall
- Swelling or protrusion under ribs
- Uncontrollable movements
- Weakness in your arms or legs
- Unable to speak or using incorrect words
- Difficulty breathing
- Thinned skin that is easily bruised
- Abdominal bloating
Diagnostic Questions for Niemann-Pick Disease
Your doctor may ask these questions to check for this disease:
- Have you been tripping or falling more often?
- Do you feel swelling or protrusion under your ribs?
- Do you have uncontrollable movements in your hands, legs, or face?
- Do you have weakness in your arms or legs?
- Do you have difficulty speaking or unintentionally say words?
Treatment of Niemann-Pick Disease
There is no cure for Niemann-Pick disease. There are different types of Niemann-Pick disease. No effective treatment is available for type A or B. For people with mild to moderate type C, an enzyme inhibitor drug may be an option. Physical therapy is an important part of treatment to help maintain mobility.
Reviewed By:
Caroline M. Doan, DO (Internal Medicine)
Dr. Doan received a Bachelor of Science degree with honors from UCLA. Prior to obtaining her medical degree, she was involved in oncology clinical research at City of Hope, a National Cancer Institute-designated comprehensive cancer center in southern California. She attended medical school at Touro University California, and completed her residency in Internal Medicine at Oregon Health & Science University. She is certified by the American Board of Internal Medicine and holds an active medical license in several states. She currently works as a physician for Signify Health providing home-based health 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 Feb 13, 2025
Following the Medical Content Editorial Policy
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People with similar symptoms also use Ubie's symptom checker to find possible causes
- Trip and fall very often
- Uncontrolled movements
- Trip over my own feet a lot
- Frequent falls
- Experiencing challenges with language
- Falling down for no reason
- Slow twitching of arms and legs
- Feeling weak after a panic attack
- Twitching in one side of the body
- Experiencing difficulty with finding the right words
- Collapsed when laughing or feeling strongly emotional
- Involuntary movements at night
- Focal aware seizures
- Unable to move both legs
- Fencing posturing
See full list
Symptoms Related to Niemann-Pick Disease
Diseases Related to Niemann-Pick Disease
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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/10.1101/2024.08.29.24312810v1References
McGovern, M. M., Dionisi-Vici, C., Giugliani, R., & Hwu, P. (2017). Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genetics in.
https://www.sciencedirect.com/science/article/pii/S1098360021021699Diaz, G. A., Jones, S. A., Scarpa, M., Mengel, K. E. (2021). One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency. Genetics in.
https://www.sciencedirect.com/science/article/pii/S1098360021050620Wasserstein, M. P., & Schuchman, E. H. (2021). Acid sphingomyelinase deficiency.
https://europepmc.org/article/nbk/nbk1370