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Living with Niemann-Pick disease, type C

An inherited fat-storage disease affecting movement, thinking, speech, and the liver, which can begin at any age.

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Understanding Niemann-Pick disease, type C

Niemann-Pick disease, type C is a complex inherited fat-storage disease in which cholesterol builds up inside cells.

In this condition, a type of cholesterol collects in a part of the cell called the lysosome. It can start at any time in life. GARD lists problems with movement, speech, thinking, behavior, feeding, and hearing, along with an enlarged liver.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Trouble coordinating movement (ataxia)
  • Muscle movement problems (dystonia)
  • Difficulty speaking clearly (dysarthria)
  • Problems with thinking (cognitive impairment)
  • Behavior changes
  • Enlarged liver (hepatomegaly)

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and lung and breathing specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    National Niemann-Pick Disease Foundation, Inc. and Epilepsy Foundation may keep lists of experts for this condition.

Care & treatment

Care team
Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
Expert care
Expert lists: National Niemann-Pick Disease Foundation, Inc., Epilepsy Foundation
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with National Niemann-Pick Disease Foundation, Inc. and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Which gene change do I or my child have, and what does that mean?
Which therapies can help with movement and speech problems?
Which specialists should be part of our care team?

Quick facts

Symptoms usually startany time in life
InheritanceAutosomal Recessive

GARD says changes in genes cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.

GeneticRespiratoryNeurologicalInherited MetabolicLysosomal Storage

Also known as: niemann pick disease type c; niemann-pick disease type c; npc; supraoptic vertical ophthalmoplegia

Patient organizations

Source: NIH GARD · Niemann-Pick disease, type CGARD ID 7207 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Niemann-Pick disease, type C.

Explore the Niemann-Pick disease, type C blog
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Explore research for Niemann-Pick disease, type C

Explore actively recruiting Niemann-Pick disease, type C studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Niemann-Pick disease, type C with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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