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COULD THE SYMPTOMS BE NPC?

What do you need to know about NPC symptoms?

The path to getting a diagnosis of Niemann-Pick disease type C (NPC) can be challenging. Symptoms vary from person to person, can be more severe for some, and can change as the person gets older. Some symptoms are also seen in other conditions, so NPC is oftentimes misdiagnosed.

But recognizing the symptoms and working with your doctor to get a diagnosis as soon as possible are critical steps in the NPC diagnosis journey.

Get printable symptoms guide

Early recognition is important

People experience different symptoms that may develop faster or more slowly, so early recognition can allow time to choose and start the right treatments.

Evaluating symptoms of NPC

Are you or a loved one experiencing symptoms of Niemann-Pick disease type C?

NPC can present with many symptoms beginning in infancy. Some of these symptoms include:

Enlarged liver or spleen (hepatosplenomegaly)
History of jaundice
History of seizures
Low muscle tone
Developmental delays
Difficulty with eye movements (tracking with the eyes, particularly looking up or down)
Unsteadiness or frequent falls
Problems with coordination

Abnormal posture
Learning difficulties
Abnormal muscle contractions (dystonia)
Problems sleeping
Difficulty swallowing
Slow or slurred speech
Psychiatric illness such as psychosis or depression
Behavioral problems
Cognitive impairment including dementia

Some patients may even experience frequent infections that cause pneumonia, breathing problems, and hearing loss.

What is NPC?

NPC is a neurodegenerative and progressive disease. The age at which symptoms start can vary from person to person, and the way they manifest can look different. The severity of symptoms may change over time depending on the age at which they started.

NPC is often misdiagnosed because symptoms can be similar to those of other diseases. Other conditions you or your loved one may have been diagnosed with include:

Dyspraxia
Cerebral palsy

Parkinson’s disease
Psychiatric disorders

NPC is a genetic disease, so you may want to consider genetic testing for you and your loved ones.

Share this site with your doctor and explore the genetic testing site together.

Testing is readily available, may be free of charge for those who qualify, and includes genetic counseling.

If you or a loved one are diagnosed with NPC, a care team is key.

After diagnosis, the journey begins with evaluating symptoms and their severity to build the team of specialists needed for support and to determine potential treatment.

What questions should you ask your doctor?

What tests can we do to confirm or rule out Niemann-Pick disease type C (NPC) or similar conditions?

Based on the symptoms we've documented, do you think NPC could be a possibility?

Are there specific symptoms or changes we should watch closely and report right away?

What treatment options are available and may be appropriate for my NPC?

Start the conversation with your doctor today.

Get printable symptoms guide

Already diagnosed? Niemann-Pick disease type C treatments

When you’re ready to consider treatment, there are options to help you take on the challenges of NPC. Your doctor may suggest a therapy aimed at treating specific symptoms or potentially a more proactive therapy. Considerations may include:

Severity and stage of your disease
Your personal treatment goals
How effective the treatment is at treating your specific presentation

Any potential side effects from the treatment
How easy it is to access the treatment and the cost

While symptomatic care generally works by alleviating or supporting the management of a specific symptom, a therapy that addresses the underlying cause of the disease can help treat some of the most important symptoms of NPC, slowing or stopping the progression of certain groups of symptoms.

learn more about a treatment option

If you may be facing NPC, there is a community ready to support you

If you or your loved one are experiencing symptoms or receiving a diagnosis of NPC, it can  feel overwhelming. But there are people who may know what you’re going through.

These organizations are dedicated to supporting families facing NPC and advancing education and research. This is not a complete list. We encourage you to explore local resources through schools and community events.

National Niemann-Pick Disease Foundation (NNPDF)

Visit nnpdf.org

Ara Parseghian Medical Research Fund at the University of Notre Dame

Visit parseghianfund.nd.edu

International Niemann-Pick Disease Alliance (INPDA)

Visit inpda.org

Firefly Fund

Visit fireflyfund.org

This website is intended for US residents only. The information provided is for educational purposes only and is not intended to replace discussions with a healthcare provider. Some patient images imagined with AI.