Trust your instinct.
It could be NPC
Luiz Felipe,
2 years old, living with infantile-onset NPC, and dad, Tiago.
Niemann-Pick type C, or NPC, is a rare, inherited condition that can have an irreversible effect on a child’s development and shorten life expectancy.1,2
About NPC
NPC is a condition in which the body is not able to move and clear cholesterol from the cells. It impacts about 1000 people in the United States at any one time, though many cases may go unrecognized. Over time, it can affect the brain, nervous system, and other parts of the body. When neurological symptoms begin before the child turns 6 years old, the condition is referred to as infantile-onset NPC.2-4
Signs of infantile-onset NPC in children
NPC can show up differently depending on a child’s age.2
Could this be NPC?
Use this symptom checklist to help understand whether what you’re seeing could be signs of NPC.
This checklist is meant to help you understand possible symptoms and should not replace guidance from a healthcare provider. It should be used for children experiencing neurological symptoms before 6 years of age.
Which neurological signs have you noticed?
Select any symptoms that your child is experiencing now or has experienced in the past.1,2
Have you noticed any of these early signs?
Some children with NPC experience these signs after birth. Select any that your child has now or has experienced in the past.1
Is there a known family history of NPC in a biological relative?
Confirm if anyone in your family has been diagnosed with NPC.
RESULTS
It may be time to start a conversation.
Based on the signs and symptoms you selected, consider talking with your child's healthcare provider about genetic testing.
NEXT STEPS
Be prepared for the conversation
Use this guide to help prepare for a conversation with your child's healthcare provider about genetic testing.
Find experienced care
A healthcare provider experienced in treating NPC can help guide next steps, answer questions, and support your child’s care.
This checklist is meant to help you understand possible symptoms and should not replace guidance from a healthcare provider. It should be used for children experiencing neurological symptoms before 6 years of age.
NEXT STEPS
Be prepared for the conversation
Use this guide to help prepare for a conversation with your child's healthcare provider about genetic testing.
Find experienced care
A healthcare provider experienced in treating NPC can help guide next steps, answer questions, and support your child’s care.
RESULTS
If you still have concerns, don’t stop asking questions.
The information you shared doesn’t necessarily point to NPC based on this checklist alone. But you still know your child best. If you’re concerned about your child’s symptoms or how they’re changing over time, continue the conversation with your child’s healthcare provider or an NPC specialist.
NEXT STEPS
Find experienced care
A healthcare provider experienced in treating NPC can help guide next steps, answer questions, and support your child’s care.
Be prepared for the conversation
Use this guide to help prepare for a conversation with your child's healthcare provider about genetic testing.
This checklist is meant to help you understand possible symptoms and should not replace guidance from a healthcare provider. It should be used for children experiencing neurological symptoms before 6 years of age.
NEXT STEPS
Find experienced care
A healthcare provider experienced in treating NPC can help guide next steps, answer questions, and support your child’s care.
Be prepared for the conversation
Use this guide to help prepare for a conversation with your child's healthcare provider about genetic testing.
RESULTS
It may be time to start a conversation.
Based on the signs and symptoms you selected, consider talking with your child’s healthcare provider about genetic testing.
NEXT STEPS
Be prepared for the conversation
Use this guide to help prepare a conversation with your child’s healthcare provider about genetic testing.
Access conversation starter
Find experienced care
A healthcare provider experienced in treating NPC can help guide next steps, answer questions, and support your child’s care.
Find a specialist
This checklist is meant to help you understand possible symptoms and should not replace guidance from a healthcare provider. It should be used for children experiencing neurological symptoms before 6 years of age.
©2026 Beren Therapeutics P.B.C. All rights reserved. Beren and Mandos are trademarks of Beren Therapeutics P.B.C. DSA-1620-US-EN-v1 07/2026
RESULTS
If you still have concerns, don’t stop asking questions.
The information you shared doesn’t necessarily point to NPC based on this checklist alone. But you still know your child best. If you’re concerned about your child’s symptoms or how they’re changing over time, continue the conversation with your child’s healthcare provider or an NPC specialist.
NEXT STEPS
Find experienced care
A healthcare provider experienced in treating NPC can help guide next steps, answer questions, and support your child’s care.
Find a specialist
Be prepared for the conversation
Use this guide to help prepare for conversations with your child’s healthcare provider about genetic testing.
Access conversation starter
This checklist is meant to help you understand possible symptoms and should not replace guidance from a healthcare provider. It should be used for children experiencing neurological symptoms before 6 years of age.
©2026 Beren Therapeutics P.B.C. All rights reserved. Beren and Mandos are trademarks of Beren Therapeutics P.B.C. DSA-1620-US-EN-v1 07/2026
DON’T RISK
MISSING NPC
In children between ages 2 and 6, neurological symptoms of NPC are often mistaken for other conditions such as2,5:
- Neurodevelopmental/
neurodegenerative/ neuromuscular disorders - Inherited metabolic/
lysosomal disorders - Liver disorders
- Infectious diseases
- Hematologic/oncologic disorders
- Psychiatric disorders
You don't need to see all of these signs to ask your doctor about genetic testing for NPC. Early diagnosis can help families plan care, access support sooner, and delay neurological progression.2,6
Fill out and bring this discussion guide to your child's doctor to see if genetic testing is the next step.
Find care from an NPC-experienced center
Use our specialist finder tool to search for healthcare providers and care centers experienced in diagnosing and managing NPC near you.
References: 1. Pineda M, Mengel E, Jahnová H, et al. A suspicion index to aid screening of early-onset Niemann-Pick disease type C (NP-C). BMC Pediatr. 2016;16:107. doi:10.1186/s12887-016-0641-7 2. Hiwot T, Porter FD, Bremova-Ertl T, et al. 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. J Inherit Metab Dis. 2026;49(3):e70185. doi:10.1002/jimd.70185 3. Burton BK, Ellis AG, Orr B, et al. Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States. Mol Genet Metab. 2021;134(1-2):182-187. doi:10.1016/j.ymgme.2021.06.011 4. Berry-Kravis E. Niemann-Pick Disease, Type C: diagnosis, management and disease-targeted therapies in development. Semin Pediatr Neurol. 2021;37:100879. doi:10.1016/j.spen.2021.100879 5. Bremova-Ertl T, Patterson M. Niemann-Pick disease type C. In: Adam MP, Bick S, Mirzaa GM, et al, eds. GeneReviews® [Internet]. Updated November 20, 2025. Accessed August 10, 2026. https://www.ncbi.nlm.nih.gov/books/NBK1296/ 6. Geberhiwot T, Moro A, Dardis A, et al. Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. Orphanet J Rare Dis. 2018;13(1):50. doi:10.1186/s13023-018-0785-7
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Medical terms
- Yellowing of the skin and eyes in newborns that lasts longer than usual:
- Prolonged neonatal jaundice
- Enlarged spleen and/or liver:
- Hepatosplenomegaly
- Inability to move the eyes up and down:
- Vertical supranuclear gaze palsy
- Difficulty moving the eyes up and down quickly:
- Vertical supranuclear saccadic palsy
- Sudden muscle weakness brought on by emotion or laughter:
- Gelastic cataplexy
- Loss of coordination and balance:
- Progressive ataxia
- Muscles tightening or pulling involuntarily, causing twisting or abnormal posture:
- Dystonia
- Trouble speaking clearly:
- Dysarthria
- Difficulty swallowing:
- Dysphagia
Medical terms
- Yellowing of the skin and eyes in newborns that lasts longer than usual:
- Prolonged neonatal jaundice
- Enlarged spleen and/or liver:
- Hepatosplenomegaly
- Enlarged spleen:
- Splenomegaly
- Low muscle tone:
- Central hypotonia
- Inability to move the eyes up and down:
- Vertical supranuclear gaze palsy
- Difficulty swallowing:
- Dysphagia
- Muscle stiffness:
- Spasticity