Alstrom syndrome
Overview
What is Alstrom syndrome?
Alstrom syndrome is a rare genetic disorder of obesity (RDGO) and is also classified as a ciliopathy. Alstrom syndrome affects many different organ systems of the body such as the eyes, heart, kidneys and others. The symptoms and the severity of these symptoms can be very different among individuals with Alstrom syndrome. This is true even for members of the same family with this disorder. Generally, the most common symptoms include vision problems, hearing problems, insulin resistance and type II diabetes, heart problems, and childhood obesity. Sometimes, other problems affecting the liver, kidneys, spine, digestive tract or breathing (respiratory) tract can occur. It is hard for doctors to predict how Alstrom syndrome will affect people. Intelligence is usually not affected in people with this disorder, although some children may have delays in reaching developmental milestones or face challenges in schooling because of hearing or vision problems. Alstrom is caused by changes (variants) in the ALMS1 gene.
References
- Marshall, JD et. al. (2012, May). GeneReviews. Alstrom Syndrome. Retrieved on June 30, 2018 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
- Genetics Home Reference. (2017, September). Alstrom Syndrome. Retrieved on June 30, 2018 from https://ghr.nlm.nih.gov/condition/alstrom-syndrome
- National Organization for Rare Disorders. (2016). Alstrom Syndrome. Retrieved June 30, 2018 from https://rarediseases.org/rare-diseases/alstrom-syndrome/
More Overview Content
Are there other names for Alstrom syndrome?
How common is Alstrom syndrome?
What is the usual abbreviation for Alstrom syndrome?
What health problems are part Alstrom syndrome?
Are there other names for Alstrom syndrome?
Alstrom syndrome was once called Alstrom-Hallgren syndrome. Alstrom and Hallgren are the last names of the Swedish doctors who first discussed this disorder in the medical literature in 1959. Alstrom syndrome is abbreviated ALMS.
References
- Alstrom syndrome. The National Organization for Rare Disorders website. Accessed February 23, 2021. https://rarediseases.org/rare-diseases/alstrom-syndrome/
- Alvarez-Satta M., Castro-Sanchez S., Valverde D. (2015). Alstrom syndrome: current perspectives. The Application of Clinical Genetics, 8. pp. 171-179.
How common is Alstrom syndrome?
No one knows for sure how many people have Alstrom syndrome. Alstrom syndrome is a rare disorder that many doctors may not know about and therefore may not diagnose people with it. Also, this disorder can affect people very differently which also makes it harder to diagnose. Both of these reasons make it very difficult to know how many people have Alstrom syndrome. While no one knows for sure how many people have Alstrom disease, there are estimates. These estimates range from 1 in 10,000 to 1 in 1,000,000 people in the general population having Alstrom syndrome. About 800 people have been reported worldwide with the disorder.
References
- Marshall, JD et. al. (2012, May). Gene Reviews. Alstrom Syndrome. Retrieved on June 30, 2018 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
- Genetics Home Reference. (2017, September). Alstrom Syndrome. Retrieved on June 30, 2018 from https://ghr.nlm.nih.gov/condition/alstrom-syndrome
What is the usual abbreviation for Alstrom syndrome?
Alstrom syndrome is abbreviated ALMS.
References
- Online Mendelian Inheritance in Man. (2019, Nov.). Alstrom syndrome. Retrieved February 23, 2021 from https://www.omim.org/entry/203800.
What health problems are part Alstrom syndrome?
Alstrom syndrome can affect people in many different ways. It is considered a multisystem disorder, which means that it can affect several different organ systems in the body. Alstrom syndrome can affect the eyes causing loss of vision, the ears causing loss of hearing, the heart potentially causing congestive heart failure, the skin, the kidneys, and the liver. Obesity is common in children as well. People with Alstrom syndrome may develop insulin resistance and type 2 diabetes. Intelligence is usually not affected, but, sometimes, children experience delays in reaching developmental milestones. This is usually because of vision and hearing problems. Alstrom syndrome can cause different symptoms in different people. This is even true for multiple people in the same family who have the genetic variants (changes) in the ALMS1 gene.
Alstrom syndrome is classified as a rare disorder of obesity and as a ciliopathy.
Nonprofit patient organizations like Alstrom Syndrome International and Alstrom Syndrome UK have detailed information on Alstrom syndrome including detailed guides on the disorder. GeneReviews is a website geared toward doctors and clinicians. It has a detailed description on Alstrom syndrome, but is very technical being written for physicians and clinicians, not patients.
References
- Marshall, JD et. al. (2012, May). Gene Reviews. Alstrom Syndrome. Retrieved on June 30, 2018 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
- Marshall, J. D., Muller J., Collin, G. B., Milan, G., Kingsmore, S. F., Dinwiddie, D.,... Naggert, J. K. (2015). Alstrom syndrome: mutational spectrum of ALMS1. Human Mutation, 36(7). 660-668.
- Alstrom syndrome. The National Organization for Rare Disorders website. Accessed May 4, 2018. https://rarediseases.org/rare-diseases/alstrom-syndrome/
