Alstrom syndrome

Alstrom syndrome is a genetic condition and as of February 2021, there is no cure. A person will never outgrow the disorder. Alstrom syndrome can affect people very differently and it is difficult to say how exactly the disorder will affect people during their lives. People with Alstrom syndrome will receive periodic evaluations to see what symptoms develop and how severe they become over time. For example, hearing loss gets worse over time, children with Alstrom disease can develop diabetes as teens and kidney problems develop can also develop later in adolescence and get worse over time. Careful monitoring of symptoms can help ensure early medical treatment.

There have been rare reports of children with Alstrom syndrome experiencing delays in speaking or in having difficulties with speech. This may be related to hearing loss, and vision loss that occurs in young children with this disorder. Most children grow out of these problems and speech is usually not affected by this disorder.

Researchers have demonstrated that Alstrom syndrome is a ciliopathy. Cilia are tiny, hair-like structures located on virtually all the cells of the body. Alstrom syndrome is caused by changes, also called variants in the ALMS1 gene. This gene produces a protein and at this point in time, researchers do not completely understand what this protein does. However, they believe that this protein plays a vital role in the health, function and development of cilia, or structures nearby or related to cilia. Because cilia are found on almost all cell types this might explain why Alstrom syndrome affects so many different organ systems of the body.

There is research indicating that the ALMS gene and its protein are involved in the melanocortin-4 receptor pathway. This metabolic pathway is involved in several rare disorders of obesity syndromes including Alstrom syndrome. The melanocortin-4 receptor is responsible for providing the signal that tells your brain that you are full and it’s time to stop eating. When the pathway is interrupted, like a broken traffic signal, the signal telling you that you are full never arrives. This involvement of the ALMS1 gene in this pathway could be the reason individuals with Alstrom syndrome gain weight and become obese.

The Ciliopathy Alliance is a nonprofit charity that has more information about cilia and ciliopathies (disorders caused by problems with cilia).

Support groups can put you in contact with other people or families that have Alstrom syndrome. As of 2021, there were about 1,200 people worldwide report in the medical literature with Alstrom syndrome. A support group called Alstrom Syndrome International is the best place to find other children and families dealing with this disorder in the United States.

There are also online communities for rare disorders such as RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders.

The medical cost of Alstrom syndrome can be significant. Some families lack the resources necessary to provide for a chronically ill or disabled child. There are several organizations that provide financial assistance.

The Social Security Administration (SSA) in the United States provides disability benefits for people who qualify. Alstrom syndrome is not listed in the publication called the Disability Evaluation Under Social Security, also called the "Blue Book." However, people with Alstrom syndrome may still qualify for assistance if they have certain symptoms that qualify.

The SSA also has a program called Supplemental Security Income, which is designed to help disabled people with little or no income. It is mainly set up to help with basic necessities.

The National Organization for Rare Disorders has links to organizations that can also provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

Taking care of someone with a long-term or chronic condition can be tiring and challenging and Alstrom syndrome is no exception. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers.

In February of 2018, the National Alliance for Caregiving put out a report called Rare Disease Caregiving in America.

Support groups for Alstrom Syndrome include Alstrom Syndrome International and Alstrom Syndrome UK.

General tips for caregivers from a psychologist with experience in the field can be found in this ThinkGenetic article .

Alstrom syndrome is a genetic disorder and people are born with it. However, the age of onset, which is when symptoms first become apparent, can vary in each person with Alstrom syndrome. Some symptoms associated with the disorder may be there at birth or in infancy, but doctors may not recognize them or may not realize that they are caused by the disorder. Other symptoms may not appear until childhood or adolescence or adulthood. Many doctors are unfamiliar with Alstrom syndrome and may not consider the disorder when trying to figure out why a child is sick. Alstrom syndrome is a highly variable disorder. This means that when the symptoms appear, how they evolve and progress, and how severe they are can be very different from one person to another. This is true even for people in the same family and who have the same change in the ALMS gene that causes the disorder.

The nonprofit organization Alstrom Syndrome International may have up-to-date information on medical centers and physicians who work with Alstrom syndrome and may best be able to explain potential symptoms and disease progression to individuals and families.

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.

Rare diseases that affect multiple organ systems, such as Alstrom syndrome, can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care to individuals and families. Medical center or research institutes that work with Alstrom syndrome families will have a multidisciplinary team.

The specific doctors that will be a person’s medical team will depend upon the specific symptoms that develop. A multidisciplinary team can include doctors who specialize in disorders of the eyes (ophthalmologists), doctors who specialize in hearing (audiologists), doctors who specialize in the kidneys (nephrologists), doctors who specialize in the heart (cardiologists), doctors who specialize in the muscles and skeleton (orthopedists), doctors who specialize in the endocrine system, the system of glands that produces and secretes hormones that the body needs for a wide variety of functions (endocrinologists), and doctors who specialize in the gastrointestinal system (gastroenterologists).

Other types of doctors and medical personnel that may see a child with Alstrom syndrome include medical geneticists, genetic counselors, physical therapists, psychiatrists, and psychologists.

Your family physician or pediatrician can help you locate specialists in your area.

Alstrom syndrome is abbreviated ALMS.

Alstrom syndrome is a highly variable disorder. This means the symptoms that develop, when they develop, and how severe they will become will be very, very different from one person when compared to another. This makes it very hard for doctors to make predictions about prognosis. Generally, Alstrom syndrome lowers life-expectancy and many people face life-threatening medical complications during the 40s and sometimes earlier in life. However, every person is an individual and how the disorder affects an individual may be different. Doctors are studying the disorder to learn more about the underlying processes that cause the symptoms in hopes of better understanding how the disorder progresses and to develop better treatments.

The nonprofit organization Alstrom Syndrome International has detailed up-to-date information on research and treatments for 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.

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.

Alstrom syndrome is caused by changes, also called variants, in the ALMS1 gene. Every person has about 20,000-25,000 genes in their cells that contain our body’s genetic information. These genes are composed of DNA. Our genes are inherited from our parents and passed on to our children. Genes are like our body’s instruction manual – they control the growth, development and enable the normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change, also called a variant, in a gene, the protein that the gene produces may be absent, not work properly, or be overproduced. The ALMS1 gene produces a protein that hasn’t been named yet. The exact function of this protein is not yet understood but it is found in all tissues of the body. People with Alstrom syndrome have changes in both copies of their ALMS1 gene. Because of these changes in the ALMS1 gene, it most likely produces a nonfunctional version of this protein.

To find a medical professional nearby who can discuss information about gene changes in Alstrom syndrome, 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. The MedlinePlus Genetics website has information on the ALMS1 gene.

A "variant" is another word for a change in a gene. Sometimes these changes are not associated with causing a genetic disease or condition, and other times they are. Variants can be benign (not disease-causing), pathogenic (disease-causing), or of unknown significance (possibly disease-causing). Genetic testing of the [I]ALMS1 gene can be helpful to determine what type of variant or genetic change someone has inherited for Alstrom syndrome.

People with Alstrom syndrome have two disease-causing variants in both of their ALMS1 genes.

Visit the National Society of Genetic Counselors, which has a Find A Genetic Counselor tool on its website. This tool can help people find a genetic counselor within the United States.

Alstrom syndrome demands a lot of time and focus from parents. As with similar disorders, it is easy for healthy siblings to feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Parents are encouraged to make time for activities especially for healthy siblings and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

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.

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.

After a diagnosis of Alstrom syndrome is confirmed, families should seek a medical consultation with a physician such as a geneticist with experience in the disorder. Support groups such as the Alstrom Syndrome International can sometimes provide referrals to physicians or medical centers with experience in treating Alstrom syndrome. At most medical centers you will see a medical geneticist, genetic counselor, and nurse who work as a team. They will answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan. The medical center will work with your current doctors to organize the treatments, tests, and specialists needed to manage the health of a person with Alstrom syndrome.

People diagnosed with Alstrom will go through a series of tests to what symptoms of the disorder have developed. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor who can help you understand the genetic aspects 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.

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.

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.

As of February 2021, there are 6 studies involving Alstrom syndrome listed on ClinicalTrials.gov, www.clinicaltrials.gov. This is a government website that provides regularly updated information about federally and privately supported research and clinical trials. This is not an exhaustive list of current research. Two of the studies are recruiting patients, one is active but not recruiting, two are finished, and one is active but not recruiting.

Patients or families should talk with their physicians about whether a clinical trial is right for them. Genetic counselors and medical geneticists are also excellent sources of information about ongoing clinical trials and can offer advice about the pros and cons of participating in such a trial. 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.The website for the American College of Medical Genetics and Genomics has a search function that can help people in the United States find a medical geneticist.

As of February 2021, there are no FDA-approved treatments for all of the symptoms of Alstrom syndrome. Because of this, doctors will try and treat the symptoms of the disorder individually.

Sensitivity to sunlight called photophobia can be treated with prescription glasses that have a special tint. If cataracts develop, they can be removed surgically if necessary. There are devices and aids that help to maximize a child’s remaining sight. Children should receive training and education for blindness or limited sight while they still have adequate sight. Because vision loss gets worse over time, training and education should be started as soon as possible.

Hearing aids can be used for hearing loss. In addition, cochlear implants have been used to treat conductive hearing loss. These devices are surgically implanted into the ear and bypass the damaged portion of the ears. Some children with Alstrom syndrome repeated middle ear infections (called glue ear) which may be treated surgically if needed.

Diet and medicine are used to treat some of the complications of Alstrom syndrome. Because children with Alstrom syndrome are at risk of obesity, doctors may recommend that children follow a strict dietary plan and encourage exercise. Diet and exercise may also be helpful in treating diabetes. Affected children may also need medications to lower their glucose levels or to reduce blood pressure. Medications may be prescribed to treat heart disease. Medications that have nicotinic acid can help treat very high levels of fat (triglycerides) in the blood. Hormone supplementation may be necessary as children reach puberty.

Alstrom syndrome is a complex disorder that can affect many different organ systems of the body. Many doctors recommend that affected children and adults be seen at a clinic that specializes in these disorders. At most medical centers, you will see a medical geneticist, genetic counselor, and nurse who work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. They will work with your current doctors to organize the treatment, tests, and specialists you need. Alstrom Syndrome International has a list of these centers in the United States.

There are medical registries for Alstrom syndrome. These databases are set up by researchers to collect information about patients with a particular disorder or group of disorders. This information helps researchers learn about a disorder, plan or study treatments, determine how a disorder progresses and other information. Patient registries require that patients either directly or through their doctor submit personal information. The Alstrom Syndrome Registry is maintained by Jackson Laboratory in Bar Harbor Maine. The support group Alstrom Syndrome UK also has a patient registry.

Talk to a genetic counselor about the pros or cons of participating in a patient registry. 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.

Eating right and getting proper nutrition is important for children and adults with Alstrom syndrome. Following a healthy diet and getting proper nutrition is important for everyone, but especially important for people with Alstrom syndrome who have an increased risk of developing diabetes and obesity. Individuals with Alstrom syndrome or parents of affected children should talk to their medical team about eating right and proper nutrition. A nutritionist should be part of the medical team and individuals and parents of affected children should not begin any diet without consultation with their medical team.

Carriers of an ALMS1 gene with a change, also called a variant, that causes Alstrom syndrome do not develop symptoms of the disorder. They are at risk of passing the variant gene on to their children who would also be carriers. If the other parent also carried a variant ALMS1 gene, then there would be a 25% chance for each pregnancy that the child will have the disorder, a 50% chance the child would be a carrier, and a 25% chance that the child would not be a carrier nor have the disorder.

To find a nearby medical professional who can discuss information about gene changes in Alstrom syndrome, 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. The Medline Plus Genetic website has information on the ALMS1 gene.

Alstrom syndrome has autosomal recessive inheritance. It is caused by changes in the [I]ALMS1 gene. Everyone has two copies of the ALMS1 gene; one inherited from their father and one from their mother. Autosomal recessive inheritance means that a person has two non-working copies of the ALMS1 gene – one from each parent. Parents of a child with Alstrom syndrome have one working copy of the [I]ALMS1 gene and one non-working copy. They are carriers for Alstrom syndrome. Carriers do not develop symptoms of the disorder. If two people who are carriers have Alstrom syndrome have a child, there is a 25% chance with each pregnancy that the child will have the disorder and a 50% chance the child will also be a carrier.

If you have a family member with Alstrom syndrome and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options. Visit the National Society of Genetic Counselors, which has a Find A Genetic Counselor tool on its website. This can help people find a genetic counselor within the United States.

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.

The nonprofit organization Alstrom Syndrome International has a newsletter called Panoramic Views that keeps families up to date on research, news, and events and other issues and concerns pertinent to Alstrom syndrome. You can contact them at their website.

Alstrom syndrome is a rare genetic disorder with fewer than 1,000 documented diagnoses worldwide. Because of its rarity, most people, and even most physicians, are not familiar with it. Support groups offer information and support for disorders. A support group may also have advice and resources to help families and people raise awareness of a disorder. Alstrom Syndrome International is a U.S.-based support group for this disorder. Rare disease organizations like the National Organization for Rare Disorders and Global Genes may also be able to help spread information and awareness of Alstrom syndrome.

Support groups often have information about how to support research endeavors and most accept donations toward research. Some groups focus specifically on supporting research. Support groups for Alstrom syndrome include Alstrom Syndrome International in the United States and Alstrom Syndrome UK in the United Kingdom. Umbrella organizations like the National Organization for Rare Disorders and Global Genes also support research. Charity navigator is an independent organization that evaluates charitable organizations.

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.

To learn about ongoing clinical research on Alstrom syndrome, ask a physician who specializes in the disorder. Genetic counselors and medical geneticists are also excellent sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial. 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. The website for the American College of Medical Genetics and Genomics has a search function that can help people in the United States find a genetics clinic.

Ongoing studies for Alstrom syndrome can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. The website allows people to enter a disease name into a search box to see current or completed studies into a particular disorder. In Europe, the EU Clinical Trial Register performs a similar service.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. Alstrom Syndrome International is a U.S.-based nonprofit support group for this disorder. Alstrom Syndrome UK is based in the United Kingdom. To stay up-to-date, you can sign up for these groups’ newsletters, or follow their social media.

While the symptoms of Alstrom syndrome can vary, many children will experience vision loss or hearing loss. Heart disease and diabetes can also affect children. These children may need special accommodations in school. They are eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as other children. Parents are encouraged to provide their child’s school with a packet of information on Alstrom syndrome and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

Global Genes, a rare disease advocacy organization, has a RARE Toolkit that advises parents on advocating for their children at their school.

The U.S. Department of Education has information on individual education plans and on 504 plans.

The nonprofit organization, Alstrom Syndrome International, may be able to provide information and support regarding these issues for children with Alstrom syndrome as they enter school.

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.

Alstrom syndrome is caused by changes (also called variants) in the ALMS1 gene. Everyone has two copies of the ALMS1 gene. They inherit one from their father and one from their mother. In people with Alstrom syndrome, both copies of their ALMS1 genes have disease-causing changes. Alstrom syndrome has what is called an autosomal recessive inheritance. This means that someone with Alstrom syndrome has changes to both of their ALMS1 genes to develop this disorder. Usually, each of their parents has a gene change in one of their ALMS1 and no change in the other copy of their ALMS1 gene. Each parent is a carrier. Carriers do not develop symptoms of the disorder. People with Alstom syndrome inherit the changed copies of ALMS1 from each of their parents.

If two carriers for Alstrom syndrome have children together, they have a 1 in 4 (or 25%) chance to have a child with Alstrom syndrome. They have a 1 in 2 (or 50%) chance to have a child that is a carrier, just like them. They also have a 1 in 4 (or 25%) chance to have a child that is not a carrier and does not have Alstrom syndrome. These odds are the same in every pregnancy that the carriers have together. No parent has control over which genes they pass, or do not pass, to their children.

People with Alstrom syndrome may be the first in their family to be diagnosed with this condition or they may have siblings with it. Because their parents only have one altered ALMS1 gene each but do not have Alstrom syndrome, this gene change can be inherited in a family without anyone being aware that it is in their DNA. However, when they have a child with someone who also has a gene change in their ALMS1 gene, they can have a child with Alstrom syndrome. This inherited disorder seems to pop up out of the blue. Unless they have a child with another person with Alstrom syndrome, people with this disorder are unlikely to have a child with this condition.

Intelligence is usually not affected in Alstrom syndrome. Some children may have delays in reaching their developmental milestones. Children may also struggle in school or have problems learning or with homework. This is most likely because of vision and hearing problems that can be present from a very young age. Parents can take various measures to accommodate vision loss or hearing loss in developing children.

The Foundation Fighting Blindness and the American Council of the Blind are organizations that may provide advice about vision loss.

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

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.

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.

Children and adults with Alstrom syndrome must be followed closely by their doctor and entire medical team. Routines examinations are necessary to detect the development of eye symptoms, hearing loss, pulmonary disease, kidney disease, liver disease, diabetes, heart disease, and the other potential symptoms associated with this disorder. The frequency of these evaluations will vary depending of the severity of Alstrom syndrome in the individual. Your doctor and medical team will work with you to development a schedule for surveillance.

It is recommended that children and adults with Alstrom syndrome received psychosocial support. This means that they should receive help for any psychological or social problems they may have. Alstrom syndrome causes people to alter their life and can lead to feelings of isolation, anxiousness, depression and frustration. These are normal feelings for individuals and families dealing with a chronic illness. Talk to your doctor and medical team about how to deal with such issues. Children or adults who are slowly losing their sight or hearing can be fearful and apprehensive. This can be extremely difficult for children to deal with and they may be reluctant to talk to their family about it. For depression or other mood issues, counseling by a psychologist or being treated by a psychiatrist may be helpful as well. It is also beneficial to talk to other people and families that are dealing with the same challenges. Support groups can provide support and networking opportunities. Alstrom Syndrome International is a support group that helps people with Alstrom syndrome.

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.

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.

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.

You did not do anything to cause your child to have Alstrom syndrome. You also could not have done anything to prevent this from happening in your child. When an egg and a sperm first meet to form a baby, there is genetic information from the mother and from the father that combine together. Parents of a child with Alstrom syndrome are carriers for this disorder and have a 25% risk with each pregnancy to have a child with Alstrom syndrome

Talk to a genetic counselor to learn more about the genetics and inheritance of Alstrom syndrome. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website. This can help parents find a genetic counselor in the United States.

Changes (variants) in the ALMS1 gene are the only known cause of Alstrom syndrome. Children with this disorder have changes in both copies of their ALMS1 genes. People with a single disease-causing change in one of their ALMS1 gene are called "carriers" for this disorder.
Disease-causing changes in genes are sometimes called pathogenic variants. They used to be called mutations but that term is no longer used.

Over time, people with Alstrom syndrome can develop vision loss and potentially blindness. Doctors recommend that children learn certain skills and abilities while they still have sight. This can include mobility training, adaptive living skills, voice recognition and transcription software and the use of Braille. There are also talking computers and reading machines that can help those with limited or no vision.

Children with Alstrom syndrome should be seen by a team of doctors. That team should include an ophthalmologist, which is a doctor that specializes in diagnosing and treating the eyes. Supports groups such as Alstrom Syndrome International may be able to provide referrals to ophthalmologists who have experience with the disorder, or to medical centers that have experience treating Alstrom syndrome.

Children with Alstrom syndrome are at risk for developing obesity. Doctors recommend that these children follow a healthy diet and get enough exercise or physical activity. Children should receive a reduced amount of calories. Exercise programs will have to be adapted for children with vision loss or blindness. Following healthy dietary recommendations will also help with diabetes and high levels of fats in the blood (hypertriglycerides).

Some people with Alstrom syndrome develop problems with the kidneys. Kidneys are organs in the body that take waste matter from your blood and send it out of your body as urine. Over time, the kidneys begin to function poorly and slowly get worse. This can start in the teenage years for some people, while other people these problems won’t begin until adulthood. An early sign of kidney disease is excessive levels of protein in the urine. This is called proteinuria. Doctors may give patients a type of medication called an angiotensinogen-converting enzyme (ACE) inhibitor which may decrease the amount of protein in the urine and may help preserve kidney function.

Sometimes, kidney function gets so bad that doctors will recommend a kidney transplant. This usually occurs because the kidneys are (or soon will be) unable to adequately perform their normal functions, including removing waste products from the blood. This is called kidney failure. At this point, people will need to go on dialysis and eventually need a kidney transplant. Sometimes, some people with Alstrom syndrome cannot get a kidney transplant. This may be because they are morbidly obese or have problems with their heart (cardiomyopathy) or uncontrolled diabetes.

A kidney transplant is a serious procedure that carries significant risks and requires the patient to take certain medications to suppress their immune system for the rest of their lives. Patients should talk to their physicians, including a kidney specialists, about the risks involved in a kidney transplant.

Kidney transplants have been successful in some people who have Alstrom syndrome. The National Kidney Foundation is a nonprofit organization that has information on the kidney, kidney diseases and kidney transplants.

Some people with Alstrom syndrome develop hearing loss. Hearing aids can help. Some children will need hearing aids in both ears. Hearing aids can help when there is a problem with the nerves in relaying information to the brain. Some children may receive cochlear implants. These devices stimulate nerve fibers within the ear and can help improve severe hearing loss.

Repeated middle ear infections (sometimes called glue ear due to the sticky fluid that develops inside the ear) can contribute to hearing loss. A surgical procedure called myringotomy can help stop infections. In this procedure, a small cut is made in the ear drum, which allows fluid in the middle ear to drain out. The cut eventually heals.

Children with Alstrom syndrome should be seen by a team of doctors. That team should include a doctor that specializes in diagnosing and treating the ears like an ear-nose-throat specialist called an otorhinolaryngologist. Supports groups such as Alstrom Syndrome International may be able to provide referrals to specialists who have experience with Alstrom syndrome, or to medical centers that have experience treating 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.

As of February 2021, there is an international Alstrom syndrome support group based in the United States called Alstrom Syndrome International. This organization seeks to provide support, information, and coordination worldwide to families and professionals in order to treat and cure Alström Syndrome. Alstrom Syndrome UK is a patient-led charity in the United Kingdom that seeks to offering high quality support services which include access to the AS specialist clinics.

Larger umbrella groups may be able to provide networking, referrals, information and support for Alstrom syndrome. These organizations include the National Organization for Rare Disorders; Global Genes; and the Genetic Alliance.

Infants with Alstrom syndrome often show symptoms within the early stages of life. The first few years of a child’s life are critically important to a child’s development. States have federally-funded early intervention programs that support families that have concerns or issues with their children’s development up to the age of three. Some states continue to offer early intervention programs beyond the age of three. Other states will transition a child into school-based programs that can be provided at home. In some states, a child may be eligible for early intervention services at no charge. Other states may charge a fee, depending on the agencies involved.

The U.S. Centers for Disease Control and Prevention have information about early intervention programs and a listing of what each state offers.

The best way to obtain the most accurate, current, clear, and comprehensive information is to be seen at a center or clinic that specializes in Alstrom syndrome. At most centers that specialize in rare disorders, you will see a medical geneticist, genetic counselor, and nurse who work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. They will work with your current doctors to organize the treatment, tests, and specialists you need.

As of February 2021, Alstrom Syndrome International, a U.S.-based nonprofit support group for Alstrom syndrome, lists 5 research institutes or medical centers with an interest in Alstrom syndrome: