A rare genetic disease that starts with type 1 diabetes followed by optic atrophy and severe neurodegeneration; prevalence: 1:1,000,000.
Wolfram syndrome is a neurodegenerative disorder of early onset and is often referred to as the acronym DID- MOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). This condition was first described by Wolfram and Wagener to be the co-occurrence of diabetes mellitus and optic atrophy, which remain as the only symptoms necessary to diagnose Wolfram syndrome. Most patients, however, develop all of the conditions listed previously, with many displaying additional neurological abnormalities. From their own magnetic resonance imaging (MRI) studies and a review of the pathological and radiological studies of persons with Wolfram syndrome, Rando et al. (1992) discovered that the degree of brain atrophy found in such patients was greater than would be predicted from clinical presentation. Neural damage to the anterior visual pathway, hypothalamic nuclei, and the vestibulocochlear nuclei appear to correlate with key symptoms of optic atrophy, diabetes insipidus, and deafness.