Niemann-Pick disease type C
Jump to navigation
Jump to search
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
- abnormal endosomal-lysosomal trafficking
- cholesterol accumulation in lysosomes
- sphingomyelinase deficiency not demonstrated
Genetics
Clinical manifestations
- disease onset from antenatal life to maturity
- life expectancy varies markedly with age of onset[1]
- hepatosplenomegaly (moderate)
- brain damage may be extensive
- inability to look up & down
- cataplexy
- epilepsy, seizures
- ataxia
- dystonia
- dysphagia
- dysarthria
- loss of vision
- hearing loss
- no peripheral neuropathy
Laboratory
Diagnostic procedures
- swallowing assessment
Radiology
Differential diagnosis
- Wilson disease
- cerebrotendinous xanthomatosis
- GM1 gangliosidosis or GM2 gangliosidosis
- Friedreich ataxia
Management
- low-cholesterol diet often recommended, but benefit limited
- prognosis is variable; some patients live into adulthood
- miglustat for symptomatic patients with life expectancy of > 1 year[1]
- 2 new therapies FDA-approved Sept. 2024
- arimoclomol (Miplyffa) in combination with miglustat
- levacetylleucine (Aqneursa)
More general terms
More specific terms
References
- ↑ 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/
- ↑ NINDS Niemann-Pick Disease Information Page https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page