Niemann-Pick disease type A (neurological type)
The symptoms include:
- hepatosplenomegaly (an enlarged liver and spleen),
- failure to thrive (gain weight and grow at the expected rate)
- progressive (getting worse over time) deterioration of the nervous system.
Sadly, children affected by this type do not survive past early childhood.
Niemann-Pick disease type B (non-neurological type)
The symptoms include:
- hepatosplenomegaly
- slow growth
- problems with lung function, including frequent lung infections
- blood abnormalities - elevated levels of cholesterol and other lipids, and decreased numbers of platelets (bodies that help blood clot).
People with Niemann-Pick disease type B usually survive into adulthood.
Niemann-Pick disease type C
This usually appears in childhood, the symptoms can include:
- severe liver disease
- breathing difficulties
- developmental delay
- seizures
- dystonia (poor muscle tone)
- lack of coordination
- problems with feeding
- inability to move the eyes vertically.
People with this condition can survive into adulthood. Niemann-Pick disease type C is further subdivided into types C1 and C2, each caused by a different gene change (mutation).
Niemann-Pick type D is a form of Niemann-Pick type C found in a population of Nova Scotia ancestry.