Disclaimer The information provided on this website is for general informational purposes only and is not intended as medical advice. Always seek the guidance of your doctor or other qualified health professional with any questions you may have regarding your health or a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. Sources Information on this web page is based on evidence and information gathered from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8671750/ - 2021 paper Chin & Fuller Wassif C, Cross J, Iben J et al. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med 2016; 18(1): 41–48 Mengel E, Klünemann H, Lourenço C, et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis 2013; 8: 166 ​(1) Patterson M, Hendriksz, 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. (2) Vanier, M. Niemann-Pick disease type C. Orphanet J Rare Dis 2010; 5: 16. (3) Wijburg FA, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78(20):1560–1567​