Wolfram syndrome is a rare, inherited condition that usually appears in childhood. The first symptoms include diabetes and vision problems, usually before age 15. Degeneration of a person’s brain eventually occurs. The outlook is poor, but research and clinical trials offer hope for new treatment options in the future.
Wolfram syndrome is a rare genetic disease. It’s a progressive, neurodegenerative disorder that damages your brain and other tissues in your body. A series of symptoms usually appear during childhood and into adulthood. Diabetes and vision changes before age 15 are usually the first symptoms. Eventually, impaired brain function can lead to early death.
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Healthcare providers have identified two genes involved in Wolfram syndrome. Genes are sequences of DNA that carry genetic information.
People with Wolfram syndrome have changes (mutations) in their genes. Healthcare providers classify Wolfram syndrome based on the affected genes:
To pass on Wolfram syndrome, usually both biological parents must carry the same gene mutation. But in some cases, a person can inherit Wolfram syndrome type 1 when only one parent has the mutation.
Because Wolfram syndrome is so rare, healthcare providers don’t know exactly how often it occurs. One study estimated that Wolfram syndrome affects 1 in 770,000 people in the United Kingdom. Studies from other countries suggest it may be more common in areas where people who are close relatives marry and have children.
Wolfram syndrome type 2 is extremely rare. Healthcare providers have reported cases in only a few families worldwide.
Symptoms of Wolfram syndrome type 1 may vary from person to person. But often, they appear in a predictable order during childhood and adolescence. This is the typical sequence and average age that symptoms appear:
An outdated name for Wolfram syndrome is DIDMOAD. This acronym incorporates the primary symptoms:
Less common symptoms include:
Symptoms of Wolfram syndrome type 2 are similar to type 1, but may also include:
People with Wolfram syndrome type 2 usually don’t have diabetes insipidus or psychiatric conditions.
Wolfram syndrome occurs when biological parents pass on changes (mutations) in the WFS1 or WFS2 (CISD2) genes to their children.
Diagnosing Wolfram syndrome can be challenging. Healthcare providers may diagnose individual conditions but not make the connection between them. Often, diagnosis occurs after multiple symptoms develop.
If your provider suspects Wolfram syndrome, they’ll recommend genetic testing. This test detects mutations in the WFS1 and WFS2 (CISD2) genes and can confirm your diagnosis.
Currently, there aren’t any standard treatments to stop or slow the progression of Wolfram syndrome. Treatment focuses on managing related symptoms. For example, healthcare providers treat diabetes mellitus with insulin to help manage blood sugar levels. Hearing aids can help people with hearing loss.
Researchers are studying therapies that may improve the outlook for people with Wolfram syndrome. Leading treatment strategies include:
Some treatments are now available through clinical trials. Others are still in development. Talk to your healthcare provider about emerging treatments and whether they might be an option for you or your child.
You can’t prevent genetic conditions such as Wolfram syndrome.
People with Wolfram syndrome have a poor prognosis. In one study of 45 patients, life expectancy ranged from 25 to 49 years with an average of 30. The most common cause of death was due to deterioration of the brainstem that controls vital functions like breathing and heart rate.
Improved diagnosis and management and the prospect of new therapies are improving the outlook.
If you have a family history of Wolfram syndrome, talk to your provider about genetic testing. With a simple blood or saliva test, you can:
A note from Cleveland Clinic
Although there’s currently no cure for Wolfram syndrome, research and clinical trials are uncovering new potential treatments. If you or a family member have Wolfram syndrome, ask your healthcare provider about clinical trials. Coping with a rare diagnosis like Wolfram syndrome can be difficult. Although it’s a rare condition, you’re never alone. Ask your provider for help finding the support and resources you need — you may be able to connect with others affected by this condition and greatly benefit from that support.
Last reviewed by a Cleveland Clinic medical professional on 08/17/2022.
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