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Incidence of Niemann-Pick type C disease

There is very little epidemiological data on Niemann-Pick type C disease (NP-C), mainly due to lack of specific laboratory testing until the 1980s and the wide clinical spectrum of the disease, which went largely unrecognized until the early 1990s.1

The minimal incidence of NP-C has been estimated to be one in every 120,000 live births, based on diagnoses over a 14-year period. However, this is likely to be an underestimate due to its heterogeneous clinical presentation, lack of clinical awareness of the disease and the difficulties with biochemical testing.1

NP-C generally arises sporadically in a panethnic pattern, although genetic isolates have been identified that show a higher than average incidence of the disease.2


  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.