Alström syndrome

What is Alström syndrome?

Alström syndrome is a rare inherited condition that affects many body systems. Signs and symptoms of this condition begin in infancy or early childhood. Alström syndrome is characterised by progressive loss of vision and hearing, enlargement of the heart and weakening of cardiac muscle (cardiomyopathy), obesity, type 2 diabetes (the most common form of diabetes), and short stature. This disorder can also affect the liver, kidneys, bladder, and lungs. Some individuals with Alström syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alström syndrome vary in severity, and affected individuals may not have all of the characteristic features of the disorder.

How common is Alström syndrome?

This condition is rare; only about 350 people are known to be affected worldwide.

What genes are related to Alström syndrome?

Mutations in the ALMS1 gene cause Alström syndrome.

The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in the ALMS1 gene likely lead to an abnormally short, nonfunctional version of this protein. The ALMS1 protein is normally present at low levels in most tissues, so a lack of this protein may help explain why the signs and symptoms of Alström syndrome affect many body systems.

How do people inherit Alström syndrome?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. The parents of an individual with Alström syndrome are carriers of one copy of the altered gene, but do not show signs and symptoms of the disorder.

What other names do people use for Alström syndrome?

  • Alstrom-Hallgren syndrome
  • Alstrom syndrome

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