Journal article
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: Systematic literature review and evidence from studies with miglustat
M Walterfang, YH Chien, J Imrie, D Rushton, D Schubiger, MC Patterson
Orphanet Journal of Rare Diseases | BMC | Published : 2012
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 pn..
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Funding Acknowledgements
None of the authors received honoraria for their roles in the production of this article. MW has received travel expenses, research grant funds and consulting honoraria from Actelion Pharmaceuticals Ltd. Y-HC has received consultancy honoraria from Actelion Pharmaceuticals Ltd. JI has received travel expenses and consultancy honoraria from Actelion Pharmaceuticals Ltd. DR is an employee of Actelion Pharmaceuticals pty Ltd, Australia. DS has received an educational grant from Actelion Pharmaceuticals pty Ltd. MCP has received a research grant, travel expenses, and consulting honoraria (directed to Mayo Clinic) from Actelion Pharmaceuticals Ltd; travel expenses and consulting honoraria (directed to the Mayo Clinic) from Shire Human Genetic Therapies, an honorarium for acting as the Chair of a Data Monitoring Committee from Stem Cells Inc., and royalties as an editor of Up-To-Date. He receives research funding from the National Institutes of Health, and has received travel expenses from the Institute of Medicine for service on the Committee to Review Adverse Effects of Vaccines.