Each month The Arc of New Jersey Family Institute spotlights a different developmental disability to help build awareness and educate others about the disorder. Learn more below.
What is Niemann-Pick disease type C1?
It is a rare and incurable progressive disorder sometimes called childhood Alzheimer’s because some of its symptoms mirror those of the brain disease.
What causes Niemann-Pick disease type C1?
It is a rare genetic disorder. Patients are not able to metabolize cholesterol and other lipids properly within the cell. Excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain.
What are the symptoms of Niemann-Pick type C1?
What is the treatment for Niemann-Pick disease type C1?
There is no known cure for this disease but supportive care is essential and can improve the quality of life for people affected with Niemann-Pick disease type C1. The therapeutic team can include specialists in:
What is the prognosis?
The lifespan of patients with NPC is usually related to the age of onset. Children with infantile onset usually succumb in the first few months or years of life, whereas adolescent and adult onset forms of Niemann–Pick type C have a more insidious onset and slower progression, and affected individuals may survive to the seventh decade.
Adult cases of NPC are being recognized with increasing frequency. It is suspected that many patients affected by NPC are undiagnosed, owing to lack of awareness of the disease and the absence of readily available screening or diagnostic tests. For the same reasons the diagnosis is often delayed by many years.