Name Niemann-Pick Disease
Related to/Also known as Juvenile dystonic lipidosis
Symptoms of Niemann-Pick Disease
Niemann-Pick (NP) is an inherited metabolic disorder, in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow and, in some people, the brain.

There are 4 types - A, B, C and D.

  • Type A, Infantile N.P., has its onset in early infancy and results in early death.
  • Type B, Juvenile Non-neuronoplathic NP, involves enlargement of the spleen and liver, which characteristically occurs in pre-teens years.
  • Type C may occur in early life or teens, with enlargement of the spleen and liver, accompanied by progressive loss of speech, ataxia and other problems.
  • Type D - similar to type C, but specifically found in people of Nova Scotia ancestry.
Useful national contacts Niemann-Pick Disease Group UK
Helpline: 0191 415 0693
Link opens in new window www.npuk.org
Online resources

Niemann-Pick Type C Suspicion Index
a quick, convenient and easy to use assessment of patients, during or following a consultation
Link opens in new window www.npc-si.com

Niemann-Pick Disease Information Page (U.S. National Institute of Neurological Disorders and Stroke)
Link opens in new window https://tinyurl.com/c2w87a

Our resources The library at The Brain Charity has a range of resources on Niemann-Pick Disease and on a wide range of disability-related issues.