What is Wolfram Syndrome?

Wolfram syndrome (WS) is an autosomal recessive genetic disorder; the mother and the father must each pass one affected copy of the gene to the child. WS is considered an ultra-rare disease and afflicts about 1 in 200,000 to 500,000 people. Medical experts estimate between 15,000 and 30,000 patients worldwide have this disease, including 1,000-2,000 in the United States. Syndrome variants include WS1, WS2, and WFS1 related disorder. The gene has also been linked to more common forms of Type 2 diabetes.

WS is difficult to diagnose with progressive and pleiotropic symptoms occurring at a variable rate in each child. Between ages 5 and 16 (age 6 median) children with WS typically first develop insulin-dependent diabetes. Most go on to next develop primary optic atrophy and vision impairment, half will develop sensorineural hearing loss, and nearly as many will develop diabetes insipidus. Unlike common types of diabetes, these children often go on to develop blindness, deafness and other neurologic disturbances. WS can also lead to psychological and behavioral issues, loss of senses of smell and taste, problems with balance and coordination, muscle spasms and seizures, urinary and gastrointestinal problems, and irregular breathing, reflecting the tissue distribution of the WS gene.