Estimates of carrier frequency have been reported as high as 1% of the general population. In juvenile diabetics, the frequency of WFS1 has been estimated at 1/148 to 1/175. The highest known prevalence was found in a Lebanese community with greater rates of consanguinity.
The prevalence in children has been reported as 1 in 500,000. WFS1 is an uncommon disease and, therefore, prevalence estimates vary greatly, ranging from 1 in 770,000 in the UK and 1 in 100,000 in a North American population. WFS2 is unique however, in that it maps to a different locus, often lacks diabetes insipidus (DI), and more commonly presents with bleeding secondary to defective platelet aggregation.
Like WFS1, Wolfram Syndrome 2 (WFS2) is characterized by juvenile-onset diabetes mellitus, optic atrophy, and sensorineural deafness. Ĭlassically, WFS is linked to mutations of the WFS1 gene however, other mutations at different loci have been shown to cause similar syndromes. WFS can manifest with various other neurological findings (e.g., peripheral neuropathy, ataxia, and cognitive impairment) or other systemic findings (e.g., renal tract abnormalities, gonadal atrophy, and psychiatric disturbances). WFS has also been termed DIDMOAD (i.e., diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome due to its association with a constellation of other symptoms. Wolfram Syndrome (WFS1) is a rare genetic cause of juvenile-onset diabetes mellitus characterized by pancreatic β-cell destruction and concurrent optic atrophy. E138 Other specified diabetes mellitus with unspecified complications.3 Management/Therapeutic Considerations.
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