Niemann-Pick

Treatment

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)
• Seizures
• 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.