Alström
Alström syndrome is a rare genetic disorder characterized by a multitude of medical issues, including vision and hearing loss, obesity, insulin resistance and type 2 diabetes, and progressive heart disease. It is caused by mutations in the ALMS1 gene.
Symptoms and Signs[edit | edit source]
The symptoms of Alström syndrome can vary greatly from person to person. However, some common symptoms include:
- Vision loss: This is often one of the first symptoms of Alström syndrome. It typically begins in infancy or early childhood and progresses over time.
- Hearing loss: This usually begins in late childhood or early adolescence.
- Obesity: Individuals with Alström syndrome often have a tendency to gain weight easily, particularly in childhood.
- Insulin resistance and Type 2 diabetes: These conditions are common in individuals with Alström syndrome and can lead to serious health complications if not managed properly.
- Heart disease: This can develop in individuals with Alström syndrome, often in the form of dilated cardiomyopathy or congestive heart failure.
Causes[edit | edit source]
Alström syndrome is caused by mutations in the ALMS1 gene. This gene provides instructions for making a protein that is found in cells throughout the body, where it plays a role in various cellular processes. Mutations in the ALMS1 gene disrupt the normal function of this protein, leading to the diverse symptoms of Alström syndrome.
Diagnosis[edit | edit source]
Diagnosis of Alström syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for Alström syndrome. Treatment is aimed at managing the individual symptoms and improving quality of life.
See also[edit | edit source]
Alström Resources | ||
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD