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Wolfram syndrome is the association of diabetes mellitus and optic atrophy,and is sometimes called DIDMOAD(diabetes insipidus,diabetes mellitus,optic atrophy,and deafness).Incomplete characterisation of this autosomal recessive syndrome has relied on case-reports,and there is confusion with mitochondrial genome disorders.We therefore undertook a UK nationwide cross-sectional case-finding study to describe the natural history,complications,prevalence,and inheritance of the syndrome.The natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive, neurodegenerative disorder.Family studies indicate autosomal recessive inheritance with a carrier frequency of one in 354,an absence of a maternal mitochondrial tRNA Leu(3243)mutation.Juvenile-onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome,the differential diagnosis of which includes other causes of neurodegeneration. |
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