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Alstrom syndrome is a very rare inherited disease that can lead to blindness, deafness, diabetes, and obesity.
Alstrom 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.
- 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:
- Gastrointestinal reflux
- Liver dysfunction
- Small penis
There is no specific treatment for this syndrome. Treatment for symptoms may include:
- Diabetes medication
- Hearing aids
- Heart medications
- Thyroid hormone replacement
The following are likely to develop:
- Permanent blindness
- Type 2 diabetes
Kidney and liver failure may get worse.