Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: Systematic literature review and evidence from studies with miglustat
Journal
Orphanet Journal of Rare Diseases
Journal Volume
7
Journal Issue
1
Pages
76
Date Issued
2012
Author(s)
Abstract
Abstract. Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000. Mutations in the NPC1 gene (in 95% of cases) and the NPC2 gene (in approximately 4% of cases) give rise to impaired intracellular lipid metabolism in a number of tissues, including the brain. Typical neurological manifestations include vertical supranuclear gaze palsy, saccadic eye movement abnormalities, cerebellar ataxia, dystonia, dysmetria, dysphagia and dysarthria. Oropharyngeal dysphagia can be particularly problematic as it can often lead to food or fluid aspiration and subsequent pneumonia. Epidemiological data suggest that bronchopneumonia subsequent to food or fluid aspiration is a major cause of mortality in NP-C and other neurodegenerative disorders. These findings indicate that a therapy capable of improving or stabilising swallowing function might reduce the risk of aspiration pneumonia, and could have a positive impact on patient survival. Miglustat, currently the only approved disease-specific therapy for NP-C in children and adults, has been shown to stabilise key neurological manifestations in NP-C, including dysphagia. In this article we present findings from a systematic literature review of published data on bronchopneumonia/aspiration pneumonia as a cause of death, and on the occurrence of dysphagia in NP-C and other neurodegenerative diseases. We then examine the potential links between dysphagia, aspiration, pneumonia and mortality with a view to assessing the possible effect of miglustat on patient lifespan. ? 2012 Walterfang et al.; licensee BioMed Central Ltd.
Subjects
Aspiration; Dysphagia; Miglustat.; Mortality; Niemann-Pick disease type C; Pneumonia; Swallowing
SDGs
Other Subjects
miglustat; Alzheimer disease; amyotrophic lateral sclerosis; article; aspiration; aspiration pneumonia; bronchopneumonia; cause of death; cerebrovascular accident; clinical assessment; degenerative disease; dementia; disease association; disease classification; drug efficacy; drug safety; drug tolerability; dysphagia; evidence based medicine; frontotemporal dementia; human; Huntington chorea; incidence; lifespan; long term care; mortality; multiple sclerosis; Niemann Pick disease; olivopontocerebellar atrophy; Parkinson disease; prevalence; progressive supranuclear palsy; randomized controlled trial (topic); risk factor; risk reduction; swallowing; systematic review; Wilson disease; 1-Deoxynojirimycin; Animals; Deglutition Disorders; Humans; Niemann-Pick Disease, Type C
Type
journal article