Living with Niemann-Pick disease, type C2
A rare inherited metabolic condition affecting many parts of the body, usually showing up in childhood.
Understanding Niemann-Pick disease, type C2
Signs can start at any age, from infancy through adulthood, but most people develop features in childhood. Features can include trouble coordinating movements (ataxia), inability to move the eyes up and down, low muscle tone, enlarged liver and spleen, lung disease, seizures, speech problems, and trouble swallowing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver (hepatomegaly)
- Enlarged spleen (splenomegaly)
- Yellowing of the skin and eyes (jaundice)
- Scarring in the lungs (pulmonary fibrosis)
- Breathing difficulty (respiratory insufficiency)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in NPC2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Niemann-Pick Disease Foundation, Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: National Niemann-Pick Disease Foundation, Inc.
- 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
Quick facts
Changes in the NPC2 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: npc2; type c2 niemann-pick disease
Patient organizations
- National Niemann-Pick Disease Foundation, Inc.Niemann-Pick disease, type C2 · United States
- Ara Parseghian Medical Research FoundationNiemann-Pick disease, type C2 · United States
- National Tay-Sachs and Allied Diseases AssociationNiemann-Pick disease, type C2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Niemann-Pick disease, type C2.
Explore research for Niemann-Pick disease, type C2
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- Recruiting studies from ClinicalTrials.gov
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