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THINK AGAIN. THINK NP-C

THINK AGAIN. THINK NP-C

CLINICAL ASSESSMENT OF NEUROLOGICAL SYMPTOMS IN NP-C

CLINICAL ASSESSMENT OF NEUROLOGICAL SYMPTOMS IN NP-C

NP-C Suspicion Index

NP-C Suspicion Index

Masterclasses

Masterclasses

Welcome to NPC-info.com

Niemann-Pick type C disease (NP-C) is a treatable inherited, irreversible and chronically debilitating neurovisceral disease with a minimal incidence estimated at 1:100,000-1:120,000.1 It is characterized by progressive, disabling neurological symptoms and premature death in most patients. The age of onset is highly variable; affecting infants, children and adults.

This website aims to increase healthcare professional awareness of how NP-C might present and help you understand which symptoms and features should prompt further investigation or referral. It also provides links to resources and tools that aid diagnosis and management of NP-C, as well as monitoring of disease progression. These resources include the updated consensus guidelines for the clinical management of NP-C in children and adults2 and the NP-C Suspicion Index, a simple-to-use screening tool to help identify patients who should be tested for NP-C to aid earlier diagnosis.3

There are two other forms of Niemann-Pick disease; type A and type B. This website focuses on Niemann-Pick type C disease and does not include information about the other forms of Niemann-Pick disease.

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References

  1. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16.
  2. Patterson MC, Hendriksz CJ, Walterfang M, et al, on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab 2012. 106(3):330-344.
  3. Wijburg FA, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology Neurology 2012;78(20):1560-7.