Alström syndrome is a very rare disease passed down through families (inherited) that can lead to blindness, deafness, diabetes, and obesity.
Alström syndrome is inherited in an autosomal recessive manner. This means both your parents must pass on a copy of the defective gene (ALMSI) in order for you to have this disease.
It is unknown how the defective gene causes the disorder.
The condition is extremely rare. It is more common in Holland and Sweden than in the United States.
- Blindness or severe vision impairment in infancy
- Dark patches of skin (acanthosis nigricans)
- Impaired heart function (cardiomyopathy), which may lead to heart failure
- Progressive kidney failure
- Slowed growth
- Symptoms of childhood-onset or type 2 diabetes
Occasionally, the following can also occur:
Exams and Tests
An eye doctor (ophthalmologist) will examine the eyes. The patient may have reduced vision.
Tests may be done to check:
There is no specific treatment for this syndrome. Treatment for symptoms may include:
- Diabetes medicine
- Hearing aids
- Heart medicine
- Thyroid hormone replacement
Alström Syndrome International -- www.alstrom.org
The following are likely to develop:
- Permanent blindness
- Type 2 diabetes
Kidney and liver failure may get worse.
- Complications from diabetes
- Coronary artery disease (from diabetes and high cholesterol)
- Fatigue and shortness of breath (if poor heart function is not treated)
When to Contact a Medical Professional
Call your health care provider if you or your child has symptoms of diabetes, such as increased thirst and urination. Seek medical attention right away if you think that your child cannot see or hear normally.
Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Taal MW, Chertow GM, Marsden PA, et al, eds. Brenner and Rector's The Kidney. 9th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 45.
Reviewed By:Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency
or for the diagnosis or treatment of any medical condition. A licensed medical professional
should be consulted for diagnosis and treatment of any and all medical conditions. Call 911
for all medical emergencies. Links to other sites are provided for information only -- they
do not constitute endorsements of those other sites. © 1997-A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.
Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.