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Alström Syndrome

What is Alström syndrome?

Alström syndrome is a rare, genetic, inherited condition that affects many body systems. While a loss of hearing and vision are some of the main characteristics, people with this condition also have enlarged hearts and type 2 diabetes. Obesity and short stature are other characteristics of this condition. This syndrome is extremely rare, as more than 900 people have been reported to have Alström syndrome worldwide.

What are the symptoms of Alström syndrome?

A progressive loss of both hearing and vision is one of the main symptoms of this condition. People may also experience type 2 diabetes, insulin resistance, and obesity, along with an enlarged heart and short stature. Serious problems with the lungs, liver, bladder, and kidneys are also common in this condition. Another symptom is a skin condition called acanthosis nigricans, which makes the skin of body folds and creases dark, thick, and velvety. 

The symptoms of this condition vary in severity. People may not experience all of the symptoms listed either. Even cases of members of the same family may vary greatly. Onset of symptoms is another factor that is individualized to each person. Some people see the onset of symptoms during infancy while others do not see them until adolescence or early adulthood. 

What causes Alström syndrome?

This syndrome is caused by a mutation in the ALMS1 gene. This gene makes a protein, although healthcare professionals are unsure of this protein’s function. They do know that this protein is present in many of the body’s tissues, so an issue in its production could result in the symptoms of Alström syndrome. 

This mutation is inherited in an autosomal recessive pattern, meaning both parents must pass down a mutated copy of the gene in order for the child to have this condition. 

How is Alström syndrome diagnosed?

An examination of family history, medical history, and symptoms is necessary to diagnose Alström syndrome. Specialized tests may also be necessary to confirm a diagnosis. Medical professionals may have trouble diagnosing this condition due to the different onsets of certain symptoms. 

What is the treatment for Alström syndrome?

Treatment for this condition is symptomatic and dependent on the specific symptoms that each individual presents. There should be a team of specialists created to treat specific symptoms. There are various methods to aid in vision loss, but no specific technology or medication to help with hearing loss. A plan should be made with the proper specialists to help with the loss of both of these senses. A healthy diet and exercise can help with obesity and type 2 diabetes. Kidney transplants have been successful in those with Alström syndrome if kidney issues are severe, as has dialysis. A cardiologist should be on the team to treat any issues with the heart, and he or she may prescribe different medications for any issues. There should also be a gastroenterologist on the team to assist with problems in the liver. 

Where can I find out more about Alström syndrome?

Alström Syndrome Articles