Wolfram Syndrome is a rare genetic disorder which is also known as DIDMOAD syndrome after its four most common features (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness).
The key features of Wolfram Syndrome are:
- Diabetes mellitus: This is a different type of diabetes than the more common type 1 as it’s not an autoimmune condition (where the body has destroyed the insulin producing cells). You also don’t tend to get microvascular complications like retinopathy (which can cause blindness) or nephropathy (which can cause kidney failure). But it’s treated in the same way as type 1 diabetes with insulin injections, blood testing, following a healthy balanced diet and getting regular physical activity. Everyone with Wolfram Syndrome is likely to have diabetes at some point.
- Diabetes insipidus: This is where the body can’t concentrate urine because the posterior pituitary gland (found at the base of the brain) isn’t making enough of the hormone vasopressin. This means that you get very thirsty and need to pass urine frequently, and your urine is very dilute. About half of people with Wolfram Syndrome have diabetes insipidus.
- Optic atrophy: This means that the optic nerve has wasted away and causes colour blindness and gradual loss of vision. Everyone with Wolfram Syndrome will have optic atrophy at some stage.
- Deafness: It can be difficult to hear high pitched sounds or to hear in a crowded room. About two thirds of people with Wolfram Syndrome will have hearing loss and about one in four of these will need a hearing aid.
- Renal problems: This can cause bedwetting, needing to pass urine frequently and loss of bladder control. Even when the symptoms of either type of diabetes are controlled, you can still get these symptoms, as they are caused by a problem with the renal tract. About two thirds of people with Wolfram Syndrome have renal problems.
- Neurological problems: These can include loss of balance, sudden muscle jerks, loss of taste and smell, breathing problems and depression. About a quarter of people with Wolfram Syndrome may have a mental health problem at some stage.
- Chronic fatigue: People with Wolfram Syndrome have a progressively declining levels of physical stamina. As this condition progresses they will need increasingly greater amounts of sleep.
Other features of Wolfram Syndrome include fertility problems and gastrointestinal problems causing constipation or diarrhoea.
How is it treated?
There isn’t a cure for Wolfram Syndrome but there are treatments for some of the features. Diabetes mellitus is treated with insulin, and diabetes insipidus with vasopressin. While hearing aids can help with hearing loss, there is unfortunately no treatment for vision loss. Renal problems may be treated by catheterization (passing a thin, flexible tube into the bladder to drain away urine), and some of the neurological symptoms can be treated with medication.
How common is it?
Wolfram Syndrome is very rare and affects around 1 in 770,000 of the total UK population, or 1 in 500,000 children.
How do you tell if you have Wolfram Syndrome?
There is no test for Wolfram Syndrome but a doctor would diagnose it if a child has both diabetes mellitus and optic atrophy. Because it’s so rare not all doctors will know about it, so if you think you or your child might have it, print off this information and show it to your doctor.
For more information, go to www.wolframsyndrome.org.
References
- Barrett T.G and Bundey S.E. 1997. Wolfram (DIDMOAD) syndrome. J Med Genet. 34: 838-841; Barrett T.G. 2000.
