Alström Syndrome is a rare, genetically inherited syndrome which has a number of common features.
The key features of Alström syndrome are:
Retinal degeneration: This is often the first feature of Alström Syndrome that is noticed. Children have nystagmus (wobbly eyes) and photophobia (extreme sensitivity to light). Poor vision can be present even in small babies, and gradual vision loss can lead to blindness.
Hearing loss: This is usually noticed before the age of 10. The severity of hearing loss in Alström Syndrome varies considerably.
Cardiomyopathy: This means that the heart doesn’t pump as well as it should. It can improve, although not completely, and it can recur in later life.
Obesity: Children and young people with Alström Syndrome have a lower energy requirement and generally are less active compared with their peer group; as a result they have a higher risk of obesity. This weight gain tends to be less severe in later life Type 2 diabetes.
Type 2 diabetes: In young adulthood, children with Alström Syndrome tend to become resistant to insulin, and can go on to develop Type 2 diabetes. High blood fat levels are also common in people with insulin resistance.
Orthopaedic and rheumatology problems: People with Alström Syndrome can have problems with their bones and joints. These include curvature of the spine, spondylitis (excessive thickening of the spine), arthritis and short stature.
There isn’t a cure for Alström Syndrome, but there are treatments for some of the features: sensitivity to bright light can be helped by wearing dark glasses, which may also slow down retinal degeneration as well. Hearing aids can be helpful in managing hearing loss. A number of drugs can be used to treat cardiomyopathy, including digoxin, frusemide and ACE inhibitors.
Following a healthy, balanced, low-energy diet and taking regular physical activity are important to keep weight under control and will usually be the first treatment for Type 2 diabetes.
Medications such as metformin, sulphonylureas and insulin can be used to treat Type 2 diabetes if weight management and physical activity are unsuccessful.
The treatment for renal (kidney) failure depends on how well the kidneys are working, but dialysis and kidney transplants are available should they fail completely.
Physical activity, stretching exercises, and massage can help with bone and joint problems.
Diagnosis test
Alström Syndrome can be diagnosed from the features above, but there is also a genetic test that can be done. Scientists have identified a gene that causes Alström Syndrome which is recessive, which means that the gene must be passed on by both parents.
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
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