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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.
Types

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 UK
Helpline: 0191 415 0693
Link opens in new window www.npuk.org
Children & young people

INHERITED METABOLIC DISEASE AND CORONAVIRUS (COVID-19) Advice for patients / parents / guardians (NPUK)
Link opens in new window INHERITED METABOLIC DISEASE AND CORONAVIRUS (COVID-19)

Niemann-Pick Disease  ('Contact', charity for families with disablede children)
Link opens in new window https://tinyurl.com/rbj5v6b

Online resources

Guidance on shielding and protecting people defined on medical grounds as extremely vulnerable from COVID-19 (GOV.UK)
Link opens in new window www.gov.uk/government/publications/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19

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

Niemann-Pick Disease (Type A) (Jnetics website)
Link opens in new window www.jnetics.org/jewish_genetic_disorders-ashkenazi_disorders-niemann_pick_disease_type_a

 Living with a condition (The Brain Charity)
Our resources Understanding Niemann-Pick Type C Disease: An Overview for parents and those caring for young people

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

This includes copies of the Niemann-Pick Disease Group's booklet "Understanding Niemann-Pick Type C Disease: An Overview for parents and those caring for young people".