This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen. Inheritance is autosomal recessive.
Niemann-Pick disease is divided into four main types according to the altered (mutated) gene and the signs and symptoms:
Some classify type A and B as “acid sphingomyelinase (ASM) deficiency”. NP type D is now considered as type C (when affected people are from Nova Scotia, Canada); other rarer types have being described.
There is currently no effective treatment for type A. Bone marrow transplantation, enzyme replacement and gene therapies may be helpful for people with type B. A medication called Miglustat has been shown to stabilize certain neurological symptoms in people with type C. Currently other treatments are under clinical investigation.
For more information, visit GARD.