No cure exists for Niemann-Pick disease. At this time, there is no effective treatment for type A. For type B, bone marrow transplantation is being studied as a possible treatment, along with enzyme replacement therapy and gene therapy. Miglustat (Zavesca) is approved for treatment of Niemann-Pick type C in Europe and in several countries but not in the U.S.
At Mayo Clinic, specialists work together to offer quality care to manage signs and symptoms, such as:
- Sudden loss of muscle tone (cataplexy)
- Excessive muscle contractions (dystonia)
- Sleep disturbances
- Difficulty swallowing and eating
- Recurrent pneumonia
Physical therapy is an important part of treatment to help maintain mobility as long as possible. Progressive symptoms of the disease require frequent medical follow-up.
Apr. 02, 2014
- Aster JC, et al. Hematopathology. Philadelphia, Pa.: Saunders Elsevier; 2013. https://www.clinicalkey.com. Accessed Oct. 15, 2013.
- Cruse RP. Overview of Niemann-Pick disease. http://www.uptodate.com/home. Accessed Oct. 16, 2013.
- Lichtman MA, et al. Williams Hematology. 8th ed. New York, N.Y.: The McGraw-Hill Companies; 2010. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=69. Accessed Oct. 16, 2013.
- Niemann-Pick disease overview — Types A, B and C. National Niemann-Pick Disease Foundation. http://www.nnpdf.org/npdisease_01.html. Accessed Oct. 16, 2013.
- Treatment options for Niemann-Pick disease. National Niemann-Pick Disease Foundation. http://www.nnpdf.org/npdisease_06.html. Accessed Oct. 16, 2013.
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