Alstrom syndrome

Symptoms

What are the main symptoms of Alstrom syndrome in young children

The first signs of Alstrom syndrome can occur in infancy and often involve the eyes. Sometimes, rapid, involuntary movements of the eyes, called nystagmus, is the first sign of the disorder. Infants and children with Alstrom syndrome may become very sensitive to light, a condition called photophobia. Young children can develop a condition called cone-rod dystrophy. Cones and rods are special cells that are found in the retina, which is a membrane that lines the back of the eyes. These cells change light into nerve impulses, which are sent to the brain to form images. This is how people see. Dystrophy means an organ or tissue breaks down or wastes away. So, in cone-rod dystrophy, the cones and rods break down and people develop some degree of vision loss. In Alstrom syndrome, many children eventually become blind, usually after 10 years of age.

Every child with Alstrom syndrome is unique. How the disorder affects each individual and how it progresses can be very different.

Other signs and symptoms that can be seen in young children include progressive hearing loss, obesity, insulin resistance, type 2 diabetes, and delays in reaching developmental milestones. Sometimes, infants and young children have a heart condition called dilated cardiomyopathy, in which the heart (or part of the heart) grows too big and the heart cannot pump blood as effectively as it needs to. Dilated cardiomyopathy can develop shortly after birth or in young children.

Because of these varied medical problems, children with Alstrom syndrome should receive planned, coordinated care from a team of doctors that includes routine examinations to check for the various signs and symptoms potentially associated with this disorder. Alstrom Syndrome International has information about medical centers and physicians that deal with this disorder. They also offer a 177-page guide about Alstrom syndrome that goes into great detail about the disorder.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • Alstrom Syndrome International. (2013). Alstrom Syndrome Handbook: A Guide to Understanding, Managing, and Treating Alstrom Syndrome. Retrieved June 30, 2018 from https://www.alstrom.org/wp-content/uploads/alstrom-syndrome-handbook.pdf
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More Symptoms Content

What are the main symptoms of Alstrom syndrome in teenagers?

How does Alstrom syndrome affect the eyes?

Does Alstrom syndrome affect hearing?

Do children with Alstrom syndrome have heart disease?

Do children with Alstrom syndrome get diabetes?

Does Alstrom syndrome affect the skin?

Do children with Alstrom syndrome have kidney disease?

What are the main symptoms of Alstrom syndrome in teenagers?

Many teenagers with Alstrom syndrome will have problems that have persisted from childhood, including vision loss. Often, teenagers will lose their sight completely by 12-16 years of age. Some degree of hearing loss is usually present as well. Some individuals have problems with their heart that have persisted since infancy or childhood because of a condition called dilated cardiomyopathy, in which part of the heart is too large and the heart cannot pump blood effectively. In others, the dilated cardiomyopathy may have resolved in childhood but may come back (recur) in their teen years.

A different heart condition called restrictive cardiomyopathy can also develop in teenagers. In this condition, the lower chambers of the heart (called the ventricles) become rigid and scar tissue can replace normal heart muscle tissue. The ventricles can't relax and the other chambers of the heart (called the atria) become too large. This causes the heart to have problems pumping blood.

Some teenagers develop insulin resistance and type 2 diabetes. Also, the onset of puberty may be delayed. There may be problems affecting the kidneys, liver, or organs of the urologic system such as the bladder.

Teenagers with Alstrom syndrome should receive planned, coordinated care from a team of doctors that includes routine examinations to check for the various signs and symptoms associated with this disorder. Alstrom Syndrome International has information about medical centers and physicians that deal with this disorder. They also offer a 177-page guide about Alstrom syndrome that goes into great detail about the disorder.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • Alstrom Syndrome International. (2013). Alstrom Syndrome Handbook: A Guide to Understanding, Managing, and Treating Alstrom Syndrome. Retrieved February 23, 2021 from https://www.alstrom.org/wp-content/uploads/alstrom-syndrome-handbook.pdf
How does Alstrom syndrome affect the eyes?

Alstrom syndrome can affect the eyes. Many people with Alstrom syndrome develop a condition called cone-rod dystrophy. Cones and rods are special cells found in the retina, which is a membrane that lines the back of the eyes. These special cells change light into nerve impulses, which are sent to the brain to form images. This is how people see. Dystrophy means an organ or tissue breaks down or wastes away. So, in cone-rod dystrophy, the cones and rods break down and people develop some degree of vision loss.

There can be other problems with the eyes too. Some people may be very sensitive to light, or their eyes may move rapidly and involuntarily. Cataracts, in which the lens of the eye becomes cloudy, can also develop.

Generally, vision gets worse during young childhood and the teen-aged years. The progression and degree of vision loss can be very different. Some people become blind during their mid-teens; other people retain some degree of sight into their 30s.

There are lots of organizations that offer information, support, and assistance for children or adults or families who are affected by vision loss or blindness. These include The Foundation Fighting Blindness and the American Council of the Blind.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • National Organization for Rare Disorders. (2016). Alstrom Syndrome. Retrieved February 23, 2021 from https://rarediseases.org/rare-diseases/alstrom-syndrome/
  • 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.
Does Alstrom syndrome affect hearing?

Alstrom syndrome can affect hearing. Often, during the first 10 or so years of a children's life they may start to lose some of their hearing. This usually affects both ears. Hearing loss may be only slight at first, but can become severe by the age of 10 or 20. As many as 70% of children will have some degree of hearing loss by the age of 10. The progression of hearing loss can be very different among children with Alstrom syndrome. This form of hearing loss is called sensorineural hearing loss and it occurs become the nerves in the ears have problems transmitting to the brain.

Some children have other issues with their ears. They may have chronic ear infections, which can contribute to hearing loss. They may also have "glue ear." This is when a thick, sticky fluid builds up behind the eardrums. This can also cause hearing loss. This form of hearing loss is called conductive hearing loss and occurs because sound waves cannot be properly 'conducted' through the ear.

Organizations that can help with hearing loss include Alexander Graham Bell Association, National Association of the Deaf, and American Society for Deaf Children.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • National Organization for Rare Disorders. (2016). Alstrom Syndrome. Retrieved February 23, 2021 from https://rarediseases.org/rare-diseases/alstrom-syndrome/
Do children with Alstrom syndrome have heart disease?

Alstrom syndrome can cause problems with the heart. People with Alstom syndrome can have develop heart conditions called dilated cardiomyopathy or restrictive cardiomyopathy. The heart is a muscle and has four chambers - two lower chambers called ventricles and two upper chambers called atria. In dilated cardopmyopathy, the left ventricle can become thin and weakened and abnormally large. This means that the heart must work harder and harder to pump blood. The heart will not be able to pump blood as well as it should. This can lead to congestive heart failure. Dilated cardiomyopathy can cause lots of different symptoms and can occur anywhere from infancy through adulthood. Sometimes it can occur in infancy and then come back later in life. The severity of the condition and how it progresses in Alstrom syndrome can be very different among people with the disorder. Restrictive cardiomyopathy can also develop, usually at some point during the teen-aged years through the 30s. In this condition, the lower chambers of the heart (called the ventricles) become rigid and scar tissue can replace normal heart muscle tissue. The ventricles cannot relax and the other chambers of the heart (the atria) become too large. This causes the heart to have problems pumping blood.

Charities like the Children's Cardiomyopathy Foundation or the American Heart Association have more information on heart conditions seen in Alstrom syndrome. People with Alstrom syndrome should have their heart regularly monitored.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • National Organization for Rare Disorders. (2016). Alstrom Syndrome. Retrieved February 23, 2021 from https://rarediseases.org/rare-diseases/alstrom-syndrome/
Do children with Alstrom syndrome get diabetes?

Some children with Alstrom syndrome have insulin resistance in childhood and develop diabetes as they get older. Insulin is a hormone that is produced by the pancreas. It helps blood sugar, called glucose, enter certain cells where the glucose is used for energy. Insulin resistance means that the cells do not respond well to insulin and fail to take in glucose. The pancreas often responds by making more insulin so that there is too much insulin in the blood.

Some people with Alstrom syndrome are eventually diagnosed with diabetes, specifically type 2 diabetes mellitus. In this form of diabetes, the pancreas produces insulin, but the body remains resistant to it and doesn't use it properly. This causes both insulin and glucose, which does not enter cells like it should, to build up in the blood. This causes people to be very thirsty and to urinate a lot. Insulin resistance often develops in childhood in people with Alstrom syndrome. Diabetes is usually diagnosed in teenagers or young adults, which is much earlier than diabetes usually occurs in people.

The American Diabetes Association has information on insulin resistance and type 2 diabetes.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • Alstrom Syndrome International. (2013). Alstrom Syndrome Handbook: A Guide to Understanding, Managing, and Treating Alstrom Syndrome. Retrieved February 23, 2021 from https://www.alstrom.org/wp-content/uploads/alstrom-syndrome-handbook.pdf
Does Alstrom syndrome affect the skin?

Some people with Alstrom syndrome have a skin condition called acanthosis nigricans. This condition causes patches of the skin to appear "velvety" and to be darker than the surrounding unaffected skin. These changes occur because the affected skin contains more pigment (hyperpigmentation). The affected skin can also become abnormally thick. This condition most often occurs in the skin of the neck, under the arm or armpits, or the groin. Acanthosis nigricans occurs because of insulin resistance.

References
  • National Organization for Rare Disorders. (2016). Alstrom Syndrome. Retrieved June 30, 2018 from https://rarediseases.org/rare-diseases/alstrom-syndrome/
  • Genetics Home Reference. (2017, September). Alstrom Syndrome. Retrieved on June 30, 2018 from https://ghr.nlm.nih.gov/condition/alstrom-syndrome
Do children with Alstrom syndrome have kidney disease?

People with Alstrom disease can develop kidney disease in adolescence or adulthood. The kidneys are organs in the body that have several roles including filtering waste products from the blood. In the beginning, there may be no obvious symptoms as kidney function starts to decline. But over time, as kidney function gets worse, people may be very thirsty, may urinate a lot, and may have protein in their urine (when the urine is tested by a doctor). Eventually, there may be swelling in some areas of the body. Sometimes, kidney function becomes so poor that a person will need dialysis and a kidney transplant.

The National Kidney Foundation has information on the kidneys and kidney transplants and nonprofit disease-specific organizations like Alstrom Syndrome International and Alstrom Syndrome UK have information on Alstrom syndrome.

References
  • National Organization for Rare Disorders. (2016). Alstrom Syndrome. Retrieved February 23, 2021 from https://rarediseases.org/rare-diseases/alstrom-syndrome/
  • Alstrom Syndrome International. (2013). Alstrom Syndrome Handbook: A Guide to Understanding, Managing, and Treating Alstrom Syndrome. Retrieved February 23, 2021 from https://www.alstrom.org/wp-content/uploads/alstrom-syndrome-handbook.pdf

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