Alstrom syndrome (patient information)
For the WikiDoc page for Alstrom syndrome, click here
Alstrom syndrome On the Web
What are the symptoms of Alstrom syndrome?
- 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:
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 (ALMS1) 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.
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)
- Heart function
- Thyroid function
- Triglyceride levels
When to seek urgent medical care?
Call your health care provider if you or your child have symptoms of diabetes such as increased thirst and urination. Seek medical attention promptly if you think that your child cannot see or hear normally.
There is no specific treatment for this syndrome. Treatment for symptoms may include:
Where to find medical care for Alstrom syndrome?
What to expect (Outlook/Prognosis)?
The following are likely to develop:
- Complications from diabetes
- Coronary artery disease (from diabetes and high cholesterol)
- Fatigue and shortness of breath (if poor heart function isn't treated)