Alstrom syndrome (patient information)

Alstrom syndrome
Overview
What are the symptoms?
What are the causes?
Diagnosis
When to seek urgent medical care?
Treatment options
Where to find medical care for Alstrom syndrome?
What to expect (Outlook/Prognosis)?
Possible complications
Alstrom syndrome On the Web
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Directions to Hospitals Treating Alstrom syndrome
Risk calculators and risk factors for Alstrom syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

Alström syndrome is a very rare disease passed down through families (inherited) that can lead to blindness, deafness, diabetes, and obesity.

What are the symptoms of Alstrom syndrome?

• 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

What causes Alstrom syndrome?

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.

Diagnosis

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

Where to find medical care for Alstrom syndrome?

Directions to Hospitals Treating Alstrom syndrome

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/001665.htm