Alstrom syndrome

Diagnosis and Testing

How do I get tested for Alstrom syndrome?

Making a diagnosis of Alstrom syndrome can be difficult because the signs and symptoms that develop in each person can be very different. Additionally, the age that certain symptoms develop can also vary. For example, some symptoms such as diabetes or kidney disease do not develop until later in life. The main way doctors diagnose Alstrom syndrome is by identifying the characteristic symptoms of the disorder and ruling out other similar conditions. Doctors will perform a thorough medical examination to look for the common symptoms of Alstrom syndrome. Molecular genetic testing, also known as DNA testing, can identify changes in the ALMS1 gene that cause the disorder but it is not always necessary.

In addition to the symptoms, doctors will explore the medical history of the entire family. The medical website, GeneReviews, has a graphic listing of signs and symptoms of Alstrom syndrome and the age range that these symptoms usually develop.

Genetic testing for Alstrom syndrome is available, although it is not always necessary to confirm a diagnosis. If you have symptoms and/or a family history of the disorder, a genetic counselor or a geneticist can usually order a genetic test for you. You can give blood or saliva, although there are other samples that can be used to test your DNA (less commonly). The sample is sent to a laboratory that will study your DNA in detail. The test will usually check to see if there are any changes (or variants) in the ALMS1 gene that could cause it to not work properly. In some rare cases, DNA testing does not detect a disease-causing variant. Your genetic counselor will receive the results and explain to you what they mean in detail.

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. The National Organization for Rare Disorders website. Accessed February 23, 2021. https://rarediseases.org/rare-diseases/alstrom-syndrome/
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Is there newborn testing for Alstrom syndrome?

What tests are used to diagnosis Alstrom syndrome?

Should other family members be tested for Alstrom syndrome?

Is there newborn testing for Alstrom syndrome?

As of 2021, newborn screening for Alstrom syndrome is not available in any U.S. state. However, prenatal testing - testing during pregnancy - is possible if the baby's parents are known to have a change (variant) in one of their ALMS1 genes. The genetic test checks to see if the baby has the same variants as their parents before the baby is born. Children and adults can also be tested after birth using a blood or saliva sample if they have symptoms.

If you would like to learn more about prenatal genetic testing for Alstrom syndrome, speak to your doctor about a referral to a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • Marshall, J. D., Maffei, P., Collin, G. B., Naggert, J. K. (2011). Alstrom syndrome: genetics and clinical overview. Current Genomics, 12(3). 225-235.
What tests are used to diagnosis Alstrom syndrome?

Many different medical tests may be performed when a doctor believes someone may have Alstrom syndrome. Often, an eye doctor is the first doctor to consider the diagnosis of Alstrom syndrome because of the characteristic eye symptoms such as nystagmus and photophobia. An eye doctor, called an ophthalmologist, may do a test called an electroretinogram. This test allows the doctor to assess the retina - the nerve-rich membrane at the back of the eye - that can be abnormal in people with Alstrom syndrome. Another test called an electro-oculogram allows the doctor to assess how well the retina functions. The retina plays an important role in vision. It contains cells that react to light and send nerve impulses to the brain, which the brain then converts to pictures, which is how we see. Many people with Alstrom syndrome develop problems with their retinas over time.

Children or adults who are being evaluated for Alstrom syndrome may also have an electrocardiogram. This test measures the electrical activity of the heart and can let doctors know that there is a problem with the heart.

Children or adults may also have a basic hearing (audiologic) examination to determine whether hearing loss is present. Although all infants in the U.S. have a hearing screening test at birth, the hearing problems in children with Alstrom syndrome usually start after birth and get worse over time.

Urine tests may be done to look for signs of kidney disease, which includes abnormally high levels of protein in the urine.

Genetic testing for Alstrom syndrome is available, although it is not always necessary to confirm a diagnosis. If you have symptoms and/or a family history of the disorder, a genetic counselor or a geneticist can usually order a genetic test for you. You can give blood or saliva, although there are other samples that can be used to test your DNA (less commonly). The sample is sent to a laboratory that will study your DNA in detail. The test will usually check to see if there are any changes (or variants) in the ALMS1 genes that could cause it to not work properly. Rarely, disease-causing variants may not be found. The genetic counselor will receive the results and explain to you what they mean in detail.

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. The National Organization for Rare Disorders website. Accessed May 4, 2018. https://rarediseases.org/rare-diseases/alstrom-syndrome/
  • Alstrom Syndrome UK. Alstrom Syndrome: A Guide to Understanding this Rare Condition. Accessed February 23, 2021 http://www.alstrom.org.uk/wp-content/uploads/2017/03/Alstrom-Medical-Handbook-SEPT-2017-FINAL.pdf
Should other family members be tested for Alstrom syndrome?

In a family with Alstrom syndrome, genetic testing can be done to see whether at-risk family members are carriers for the disorder. However, the specific gene changes in the ALMS1 gene in that family must be known. If known, all siblings of a child with Alstrom syndrome can be tested to see whether they have the disorder or whether they are carriers. A genetic counselor or physician with experience in this disorder can provide advice about how a diagnosis can impact other family members.

As of 2021, no state in the United States performs newborn screening for Alstrom syndrome. Newborns who may be at-risk for developing Alstrom syndrome may have genetic testing or other tests to look for symptoms of this disorder.

The National Society of Genetic Counselors website offers a Find a Genetic Counselor tool on its website. This can help people find a genetic counselor within the United States.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • Marshall, J. D., Maffei, P., Collin, G. B., Naggert, J. K. (2011). Alstrom syndrome: genetics and clinical overview. Current Genomics, 12(3). 225-235.

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