Niemann-Pick disease

Juvenile dystonic lipidosis, acid sphingomyelinase deficiency

What is Niemann-Pick disease?

Niemann-Pick is a rare and inherited disease which affects the body’s ability to break down fat in the cells.

It affects the brain, liver, nerves and in extreme cases can affect the lungs.

Niemann-Pick disease is classified into three types:

  • Type A is the most severe form of the disease and is usually fatal in early childhood.
  • Type B is a less severe form of the disease that typically presents in early childhood.
  • Type C is the least severe form of the disease and typically presents in adolescence or adulthood.

What causes Niemann-Pick disease?

Niemann-Pick disease is caused when both parents pass down a mutated gene.

The genes involved in Niemann-Pick disease are responsible for producing an enzyme called sphingomyelinase.

When this enzyme is mutated, it causes cells to accumulate fat, which can damage the liver, spleen, lungs and eventually the brain.

What are the symptoms of Niemann-Pick disease?

Depending on the type and severity of the disease, a person infected by Niemann-Pick will experience varying symptoms.

These can include:

  • Clumsiness
  • Excessive muscle contractions
  • Disturbed sleeping patterns
  • Difficulty swallowing and eating
  • Recurring pneumonia

There is currently no cure for Niemann-Pick disease, but there are treatments that can help manage some of the symptoms and further treatments are under clinical investigation.

Are you affected by Niemann-Pick disease?

If you’re affected by Niemann-Pick disease, The Brain Charity can support you.

We are the only charity in the UK to be here for every one of the more than 600 different neurological conditions in existence. Individually, many are rare, but combined, they affect 1 in 6 people.

We provide practical help on all aspects of living with Niemann-Pick disease, emotional support such as counselling, phone befriending and group therapy and social activities to people with Niemann-Pick disease from all over the UK from our centre in Liverpool.

Looking to talk to someone?

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Phone us

Contact The Brain Charity now

Our friendly Information & Advice Officers are here to help. We endeavour to respond to all enquiries within 10 working days.

0151 298 2999

Looking to talk to someone?

  • Please tell us which neurological condition you are affected by and what you need support with.

Caring for someone with Niemann-Pick disease

We support carers, friends and family too

Are you a carer for or relative of someone with Niemann-Pick disease? It’s just as important for you to look after your own physical and mental wellbeing too.

The Brain Charity provides free support for carers, friends and family of people with any form of neurological condition, including Niemann-Pick disease, from anywhere in the UK.

We also run an additional carers advocacy service for all carers in Liverpool, regardless of which type of condition the person they care for has.

You don’t need to be a formal or registered carer

We can help you even if you don’t view yourself as a formal carer or claim Carer’s Allowance. Find out some of the ways we support carers below.

Other resources

The Brain Charity's library

The Brain Charity’s library has a range of resources on Niemann-Pick disease, as well as many other disability related issues.

Support groups

Support groups at The Brain Charity

Are you interested in setting up a Niemann-Pick disease support group, or do you already run one? Email to let us know.

Alternatively, you can check out our list of related support groups here.

Other charities



Phone: 0191 415 0693