Niemann-Pick disease type C

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Introduction

Subacute or juvenile form.

Epidemiology

  • rare
  • prevalence: 1 case per 100,000 live births[1]
  • may appear early in life or be delayed into the teen years

Pathology

Genetics

Clinical manifestations

Laboratory

Diagnostic procedures

Radiology

Differential diagnosis

Management

More general terms

More specific terms

References

  1. 1.0 1.1 1.2 1.3 Geberhiwot T, Moro A, Dardis A, et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018 Apr 6;13(1): 50. PMID: https://www.ncbi.nlm.nih.gov/pubmed/29625568 Free PMC Article https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889539/
  2. NINDS Niemann-Pick Disease Information Page https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page

Patient information

Niemann-Pick disease tyoe C patient information