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What is Wolfram Syndrome?

By Erin J. Hill
Updated: May 17, 2024
Views: 4,703
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Wolfram Syndrome (WS or DIDMOAD) is a condition which shares many characteristics with typical Type 1 diabetes and is caused by a genetic mutation in the WSF1 gene. The most common symptom is the onset of Type 1 diabetes combined with signs of the mutated gene upon closer investigation. Other symptoms which may occur are blindness, deafness, and occasionally other nervous system abnormalities. In some patients the kidneys may fail to conserve fluids properly in the body.

Based on most studies, WS is a very rare disorder. It is estimated that only 1% of adults carry the recessive gene responsible for the condition. These individuals do not have symptoms and are not affected by this gene, but are only carriers of the defect. Wolfram Syndrome only occurs when couples in which both partners carry the gene have children. Approximately one-fourth of the children born to a gene carrying couple will have the condition.

The primary symptom of Wolfram Syndrome is Type 1 diabetes, which is a condition involving a marked lack of insulin in body. This can cause severe low blood sugar, or hypoglycemia, unless closely monitored. Most children who develop this condition have many of the same characteristics as others with typical diabetes. The main distinction in children with Wolfram Syndrome is that they also sometimes exhibit autoimmune activity. Low blood sugar can generally be controlled by properly monitoring blood glucose levels and eating a healthy diet.

Some patients with WS eventually lose eyesight because the nerve which connects the eye to the brain gradually withers and loses function. Others may also become deaf. Special monitoring of kidney function should also be performed to ensure that patients do not become dehydrated due to lack of proper fluid retention. Those with kidney malfunction may be advised to consume more sodium, as this causes the cells of the body to retain more water.

Other than proper monitoring of diabetic symptoms, there is no known treatment or cure for Wolfram Syndrome. Patients who lose sight or hearing may learn to communicate and function in other ways. Many experience a gradual loss of their senses, so speech and other learned skills may already be established. Luckily, by properly maintaining blood sugar levels, this side effect can oftentimes be avoided or slowed.

Less common symptoms of Wolfram Syndrome include anemia, dilated urethra, long-term fatigue, depression, and seizures. Most of these can be treated with medication. Patients can help avoid some of these symptoms by maintaining proper blood sugar with a combination of healthy diet, exercise, and sometimes insulin injections. This condition should be closely monitored by a doctor or another health care provider.

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