What is Wolfram syndrome?
Wolfram Syndrome is an autosomal recessive genetic disorder. Everybody has 2 copies of the Wolfram gene; for a child to be affected, he/she usually inherits one copy with a mistake on, from the father and one copy with a mistake on, from the mother. In this situation, each parent carries one healthy copy of the Wolfram gene, and one copy with a mistake in. Wolfram Syndrome is considered a rare disease and afflicts about 1 in 500,000 people. There are around 30,000 patients in the world who have this disease.
In early childhood, kids with Wolfram Syndrome first develop insulin-dependent diabetes. Unlike common types of diabetes, these children go on to develop blindness, deafness and other neurologic disturbances. Wolfram Syndrome can also lead to loss of sense of smell, problems with balance and coordination, muscle spasms and seizures, urinary tract problems, and irregular breathing.
There are currently no drug therapies or cures that exist for Wolfram Syndrome. Due to improvements in clinical care during the last years, many Wolfram patients now get older than 30 years however life is still reduced drastically.