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Medical Encyclopedia |
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| Contents of this page: | |
Definition Return to top
Alström syndrome is a very rare inherited disease that can lead to blindness, deafness, diabetes, and obesity.
Causes Return to top
Alström syndrome is an autosomal recessive inherited disorder. This means that a person must inherit a copy of the defective gene from both parents to be affected. It is extremely rare, but is more common in Holland and Sweden than in the United States.
The altered gene, ALMS1, has been found. However, it is not yet known how this gene causes the disorder.
Symptoms Return to top
Occasionally, the following can also occur:
Exams and Tests Return to top
An eye doctor (ophthalmologist) will examine the eyes. The patient may have reduced vision.
Tests may be done to check:
Treatment Return to top
There is no specific treatment for this syndrome. Treatment for symptoms may include:
Support Groups Return to top
Alström Syndrome International -- www.alstrom.org
Outlook (Prognosis) Return to top
The following are likely to develop:
Kidney and liver failure may get worse.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call your health care provider if you suspect symptoms of diabetes such as increased thirst and urination. Seek medical attention promptly if you suspect that your infant or child cannot see or hear normally.
Update Date: 8/1/2008 Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
