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Alström syndrome - All Information

Definition of Alström syndrome:

Alström syndrome is a very rare inherited disease that can lead to blindness, deafness, diabetes, and obesity.

Causes, incidence, and risk factors:

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:

Blindness or severe vision impairment in infancy
Dark patches of skin (acanthosis nigricans)
Deafness
Impaired heart function (cardiomyopathy), which may lead to heart failure
Obesity
Progressive kidney failure
Slowed growth
Symptoms of childhood-onset or type 2 diabetes

Occasionally, the following can also occur:

Gastrointestinal reflux
Hypothyroidism
Liver dysfunction
Small penis

Signs and tests:

An eye doctor (ophthalmologist) will examine the eyes. The patient may have reduced vision.

Tests may be done to check:

Blood sugar levels (to diagnose hyperglycemia)
Hearing
Heart function
Thyroid function
Triglyceride levels

Treatment:

There is no specific treatment for this syndrome. Treatment for symptoms may include:

Diabetes medication
Hearing aids
Heart medications
Thyroid hormone replacement

Support Groups:

Alström Syndrome International -- www.alstrom.org

Expectations (prognosis):

The following are likely to develop:

Deafness
Permanent blindness
Type 2 diabetes

Kidney and liver failure may get worse.

Complications:

Complications from diabetes
Coronary artery disease (from diabetes and high cholesterol)
Fatigue and shortness of breath (if poor heart function isn't treated)

Calling your health care provider:

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.

Reviewed last on: 8/1/2008
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.

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