Ontology highlight
ABSTRACT:
SUBMITTER: Gibberd FB
PROVIDER: S-EPMC1739246 | biostudies-other | 2004 Sep
REPOSITORIES: biostudies-other
Gibberd F B FB Feher M D MD Sidey M C MC Wierzbicki A S AS
Journal of neurology, neurosurgery, and psychiatry 20040901 9
<h4>Background</h4>Adult Refsum's disease (ARD) is characterised by the presence of retinitis pigmentosa, ataxia, deafness, sensory neuropathy, and bony changes. The diagnosis is confirmed by the presence of phytanic acidaemia. Although reduced smell function has been described in ARD, its value in the diagnosis of the condition has not been fully evaluated.<h4>Objective</h4>To investigate the prevalence and degree of olfactory dysfunction in patients with ARD.<h4>Method</h4>The olfactory functi ...[more]