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.
Nov. 19, 2012