Neiman-Pick Disease Quiz

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.

• 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

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.