Neiman-Pick Disease Quiz

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Medically Reviewed By:

Caroline M. Doan

Caroline M. Doan, DO

Internal medicine

Yoshinori Abe

Yoshinori Abe, MD

Internal medicine

From our team of 50+ doctors

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Learn more about Neiman-Pick disease

Content updated on Jun 1, 2022

What is Neiman-Pick disease?

Niemann-Pick disease is a rare genetic disease that affects the ability of the body 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.

Symptoms of Neiman-Pick disease

  • Feeling breathless

  • Thinned skin that is easily bruised

  • Weakness in arms or legs

  • Child refuses to eat

  • Stomach feels bloated

  • Nausea or vomiting

  • Falling frequently

  • Uncontrollable movements

Questions your doctor may ask to check for Neiman-Pick disease

Your doctor may ask these questions to diagnose Neiman-Pick disease

  • Are you breathless or having hard time breathing?

  • Do you bruise more easily or have thinner skin than before?

  • Do you feel any weakness in your arms or legs?

  • Does your child refuse to feed or has problems feeding?

  • Do you feel that your abdomen (stomach) is bloated or has a lot of gas?

Treatment for Neiman-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, a drug called miglustat (an enzyme inhibitor) may be an option. Physical therapy is an important part of treatment to help maintain mobility.

View the symptoms of Neiman-Pick disease

Medically Reviewed By:

Caroline M. Doan

Caroline M. Doan, DO

Internal medicine

Yoshinori Abe

Yoshinori Abe, MD

Internal medicine

From our team of 50+ doctors

Just 3 minutes.
Developed by doctors.

Ubie is supervised by 50+ medical experts worldwide

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Yoshinori Abe, MD

Internal medicine

Co-founder of Ubie, Inc.

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