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Definition
Alström syndrome is an inherited disease characterized by progressive blindness, deafness, early-onset type 2 diabetes mellitus, and obesity. Intelligence is not affected.Causes, incidence, and risk factors
Alström syndrome is an autosomal recessive inherited disorder, which means that a person must inherit a copy of the defective gene from both parents in order to be affected. It is extremely rare, but is more common in Holland and Sweden than in the United States.
The mutated gene, ALMS1, was recently identified, but it is not yet known how this gene causes the disorder.
Symptoms
Occasionally, the following are also associated:
Signs and tests
Treatment
There is no specific treatment for this syndrome. Diabetes can be treated with oral medications, insulin, or a combination of both. Cholesterol can be reduced with medications. Hearing can be augmented with hearing aids. If heart abnormalites are present, medications such as ACE inhibitors, beta-blockers, or spironolactone can be given to improve heart function. Hypothyroidism can be treated with thyroid hormone replacement.Support Groups
Alström Syndrome International
14 Whitney Farm Road
Mount Desert, Maine 04660
Expectations (prognosis)
Permanent blindness and deafness is likely to develop. Type 2 diabetes mellitus develops. Kidney and liver failure may progress.
Complications
Complications related to diabetes mellitus can occur. Impaired heart function, if untreated, can lead to fatigue and shortness of breath. Diabetes and high cholesterol increase the risk of coronary artery disease.
Calling your health care provider
Call your health care provider if you suspect symptoms of diabetes mellitus 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: 1/28/2003 Updated by: Chayim Y. Newmark, M.D. Division of Pediatrics, Saint Louis Children's Hospital, Washington University, Saint Louis, MO, and Todd T. Brown, M.D., Division of Endocrinology and Metabolism, Johns Hopkins Hospital, Baltimore, MD. Review provided by VeriMed Healthcare Network.
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Page last updated: 28 October 2004 |