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• W1692053231 abstract "Diabet. Med. 28, 1337–1342 (2011) Abstract Aims Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile‐onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Methods Clinical presentation of juvenile‐onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Results Subjects with juvenile‐onset non‐autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ± 7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. Conclusions The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations." @default.
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• W1692053231 date "2011-10-17" @default.
• W1692053231 modified "2023-10-17" @default.
• W1692053231 title "Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India" @default.
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• W1692053231 doi "https://doi.org/10.1111/j.1464-5491.2011.03377.x" @default.
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