Alström Syndrome

Last updated: February 8, 2026Reviewed date: February 8, 2026Reading time: 27 min read
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Alström syndrome is a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body. The disorder is generally characterized by vision and hearing abnormalities, obesity in childhood, insulin resistance, diabetes mellitus, heart disease (dilated cardiomyopathy),...

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Article Summary

Alström syndrome is a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body. The disorder is generally characterized by vision and hearing abnormalities, obesity in childhood, insulin resistance, diabetes mellitus, heart disease (dilated cardiomyopathy), and slowly progressive kidney (renal) dysfunction, potentially leading to renal failure. Additional symptoms including lung (pulmonary), liver (hepatic), kidney (renal),...

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  • This article explains Causes in simple medical language.
  • This article explains Symptoms in simple medical language.
  • This article explains Diagnosis in simple medical language.
  • This article explains Treatment in simple medical language.
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Definition

Alström syndrome is a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body. The disorder is generally characterized by vision and hearing abnormalities, obesity in childhood, insulin resistance, diabetes mellitus, heart disease (dilated cardiomyopathy), and slowly progressive kidney (renal) dysfunction, potentially leading to renal failure. Additional symptoms including lung (pulmonary), liver (hepatic), kidney (renal), and endocrine dysfunction can also occur. Although some children may experience delays in attaining developmental milestones, intelligence is usually unaffected. Alström syndrome is caused by disruptions or defects (mutations) in the ALMS1 gene. The protein encoded by this gene has been implicated in ciliary function, cell cycle control, and intracellular transport. Alström syndrome is inherited as an autosomal recessive trait.

Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, and type 2 insulin is low or not working well. সহজ বাংলা: রক্তে চিনি বেশি থাকার রোগ।" data-rx-term="diabetes" data-rx-definition="Diabetes is a condition where blood sugar stays too high because insulin is low or not working well. সহজ বাংলা: রক্তে চিনি বেশি থাকার রোগ।">diabetes (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alström syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety.

Causes

Alström syndrome is caused by mutations in the ALMS1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.

In Alström syndrome, the gene mutation is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that is on the chromosomes received from the father and the mother.

Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual inherits one normal gene and one gene for the disease, the person will be a carrier of the disease but usually will not show symptoms. The risk for two carrier parents to both pass the altered gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Investigators have determined that the ALMS1 gene is located on the short arm (p) of chromosome 2 (2p13). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 2q13” refers to band 13 on the long arm of chromosome 2. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

The ALMS1 gene contains instructions for creating (encoding) a specific protein known as ALMS1. The role and function of this protein in the body are not fully understood but are believed to be involved in ciliary function, cell cycle control, and intracellular transport. The ALMS1 protein is expressed in all organ tissues of the body (ubiquitously expressed). Research is underway to determine this protein’s exact functions, which should greatly increase the understanding of Alström syndrome. Because symptoms of Alström syndrome vary greatly among family members, researchers suspect that additional genetic or environmental factors may play a role in the development and progression of Alström syndrome.

As mentioned above, some research has indicated that the protein encoded by the ALMS1 gene has a role in the proper function, formation, and/or maintenance of cilia, the hair-like structures that can be found in almost all types of cells in the body, and possibly some related structures such as the basal body (which “anchors” the cilia to a cell). A related disorder known as Bardet-Biedl syndrome has also been linked to ciliary dysfunction. Several disorders, referred to as ciliopathies, have been linked to ciliary dysfunction. More research is necessary to determine what role if any, cilia and related structures play in the development of Alström syndrome.

Mutations in the ALMS1 gene cause Alström syndrome. The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ALMS1 protein. This protein is normally present at low levels in most tissues, so a loss of the protein’s normal function may help explain why the signs and symptoms of Alström syndrome affect many parts of the body.

Diagnosis

A diagnosis of Alström syndrome is made upon a thorough clinical evaluation, identification of characteristic findings (e.g., cone-rod dystrophy, sensorineural hearing impairment, cardiomyopathy, obesity, kidney dysfunction, diabetes), and a variety of specialized tests. A diagnosis of Alström syndrome may be difficult because of the delayed onset of certain key characteristics including diabetes, cardiomyopathy, and kidney disease. The absence of certain findings (e.g., polydactyly, intellectual disability) distinguishes Alström syndrome from similar syndromes such as Bardet-Biedl syndrome or Laurence-Moon syndrome.

Clinical Testing and Work-Up

An eye specialist (ophthalmologist) using specialized tests can make a diagnosis of disorders affecting the retina of the eye such as Alström syndrome. An electroretinogram (ERG) may be used to detect abnormalities in the retina, and an electrooculogram (EOG) may be used to measure retinal function. Sensorineural deafness may be confirmed through a variety of specialized hearing (auditory) tests.

Individuals with a suspected diagnosis of Alström syndrome should receive a thorough physical examination to detect the potential presence of additional heart, endocrinological, and kidney abnormalities often associated with Alström syndrome.

Molecular genetic testing can confirm a diagnosis of Alström syndrome. Molecular genetic testing can detect mutations in the ALMS1 gene known to cause the disorder. Molecular genetic testing detects ALMS1 mutations in approximately 70%-80% of individuals of Northern European descent and approximately 40% of individuals worldwide.

Treatment

There is no specific treatment for individuals with Alström syndrome. Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment will require the coordinated efforts of a team of specialists. Pediatricians, cardiologists, specialists who assess and treat hearing problems (audiologists), specialists who assess and treat vision problems (ophthalmologists), specialists who deal with the system of glands that secrete hormones into the bloodstream (endocrinologists), specialists who assess and treat skeletal problems (orthopedists), and other healthcare professionals may need to systematically and comprehensively plan an affect child’s treatment.

There is no cure for Alström syndrome; however, there are treatments aimed to reduce the symptoms and prevent further complications. Some of these treatment aims include:[rx][rx][rx]

  • Corrective lenses: tinted lenses that help with the sensitivity to bright lights. The patients may have to adapt to reading in Braille and use adaptive equipment, mobility aids, and adaptive computing skills.
  • Education: patients with Alström syndrome who have intellectual disabilities must have access to education. They must be able to receive a free and appropriate education. Some Alström syndrome patients are educated in normal classrooms. Other patients have to take special education classes or attend specialized schools that are prepared to teach children with disabilities. Staff members from schools have to consult with the patient’s parents or caregivers in order to design an education plan based on the child’s needs. In addition, the school may document the progress of the child in order to confirm that the child’s needs are being met.
  • Hearing aids: the battery-operated devices are available in three styles: behind the ear, in the ear, and inside the ear canal. Behind the ear aims for mild-to-profound hearing loss. In the ear aims for mild to severe hearing loss. Lastly, the canal device is aimed for mild to moderately severe hearing loss. Patients that have severe hearing loss may benefit from a cochlear implant.
  • Diet: an appropriate and healthy diet is necessary for individuals with Alström syndrome because it could potentially decrease the chances of obesity or diabetes.
  • Occupational therapy: the therapist helps the child learn skills to help him or her perform basic daily tasks like eating, getting dressed, and communicating with others.
  • Physical Activity: exercising reduces the chances of being obese and helps control blood sugar levels.
  • Dialysis: helps restore filtering function. With hemodialysis, a patient’s blood circulates into an external filter and clean. The filtered blood is then returned to the body. With peritoneal dialysis, fluid containing dextrose is introduced into the abdomen by a tube. The solution then absorbs the wastes into the body and is then removed.
  • Transplantation: patients that endure kidney failure may undergo kidney transplantation.
  • Surgery: if the patient endures severe scoliosis or kyphosis, surgery may be required.

Medication

  • Antibiotics: patients with lung problems will be prescribed antibiotics because they are more prone to infections like bronchitis.
  • Oral diabetes medications: are taken by mouth to treat diabetes. Can be taken combined into a single pill, which may be more effective and convenient for people with diabetes. It is usually taken once or twice daily before meals. Some of these medications include:
    • Meglitinides (repaglinide and nateglinide): taken to stimulate the cells found in the pancreas to release insulin. These drugs are taken by mouth daily before each meal and could cause a drop in blood sugar.[rx]
    • Metformin (biguanide): decreases the amount of blood sugar being released by the liver and by stimulating the cells within muscles to take up blood sugar. Taken twice daily.
    • Thiazolidinediones (rosiglitazone and pioglitazone): taken to help insulin work more efficiently in muscle and fat cells causing the liver to release less glucose. Is associated with heart failure.
    • Dipeptidyl peptidase IV (DPP-4) inhibitors (sitagliptin): help with improving blood sugar levels by decreasing the action of an enzyme breaking down GLP-1 (lowers the blood sugar level).
    • Injected diabetes medicine: taken by an injection into the fat below the skin. Sometimes referred to as subcutaneous injections. 
    • Pramlintide (Symlin): is an Amylin agonist. It acts centrally (via the brain) to reduce food intake and blood sugar. It is most commonly used at mealtimes by people with type 1 and type 2 diabetes.
    • Exenatide (Byetta): synthetic form of exendin-4 ( a GLP-1 receptor agonist that increases secretion of insulin, decreases the secretion of glucagon from the pancreas, and reduces food intake).
  • Cholesterol-lowering medications: is necessary when cholesterol levels are high. HMG-CoA reductase inhibitors also called “statins,” effectively lower levels of low-density lipoprotein, cholesterol, and triglycerides. High-dose nicotinic acid (niacin) may also reduce cholesterol levels.[rx]
  • Heart medications: Angiotensin-converting enzyme (ACE) inhibitors, diuretics, digoxin, and beta-blockers may help with the management of cardiomyopathy and heart failure.[rx]

Photophobia may be treated with specially-tinted, prescription glasses. In cases where cataracts significantly interfere with vision, they may be removed surgically. Whether or not surgery helps to improve vision often depends on how far the retinal changes have advanced.

Various vision aids may help people with Alström syndrome to make maximum use of their remaining vision. These include optical aids such as Corning and NOIR glasses, the Fresnel Prising telescope, microscopes, and night vision devices. Non-optical aids that may also be useful include the Apollo Laser, Visualtek closed-circuit television, the Wide Angle Mobility Light, paper guides, large-print typewriters, and adjustable stands. There are also reading machines and talking computers that can enhance the quality of life for individuals whose vision is severely impaired by Alström syndrome.

Children with Alström syndrome should receive instruction while they retain sight. Physicians have recommended that, in anticipation of total blindness, children learn mobility training, adaptive living skills, computing skills such as voice recognition and transcription software, and the use of Braille before sight is lost.

There is no specific treatment for sensorineural hearing loss. Hearing aids may help to maximize remaining hearing, and speech therapy may enhance the ability of a child to communicate orally. In the case of deafness associated with Alström syndrome, teaching a child sign language may not be an option as vision loss may also occur. Therefore, educational methods and options should be chosen carefully. A surgical procedure called a myringotomy, in which a thin incision is made in the eardrum to release fluid may be performed for individuals with glue ears. Cochlear implants, which improve hearing by stimulating nerve fibers within the inner ear, have been beneficial in some cases. Tactile sign language could be of help for some deaf-blind individuals.

Strict dietary measures and exercise programs may help to control obesity, as well as aid in the management of diabetes mellitus and/or glucose intolerance associated with Alström syndrome. In most of the diagnosed patients of Alström syndrome, diabetes is controlled by diet and exercise alone. However, it is necessary in some cases to treat diabetes with oral antidiabetic agents or insulin. Patients may control diabetes for many years with insulin-sensitizing agents such as metformin. In several individuals, the group of incretins agents such as the Glucagon-like peptide 1 (GLP-1) analogs and the dipeptidyl peptidase-4 (DPP-4) inhibitors has been used with success.

If insulin therapy should become necessary for diabetes associated with Alström syndrome, a daily routine of insulin injection, a controlled diet, exercise to burn off glucose, and testing for blood sugar level is vital in achieving and maintaining good blood sugar control. Self-monitoring of blood glucose levels uses a single drop of blood which is obtained with a finger stick, and placed on a chemically treated pad on a plastic strip; the color change of the chemically treated pad is compared to a color chart or “read” by a battery-operated portable meter. For blind individuals, talking glucose meters are available so that testing can be done independently.

In many individuals with Alstrom Syndrome, insulin is ineffective. Insulin must be given by injection, usually two or more times each day. Portable “insulin pumps” have been developed that permit continuous administration of insulin, as well as additional amounts of insulin when needed to control the changes in blood sugar levels that occur after meals.

If excess levels of protein are detected in the urine (proteinuria), drugs known as angiotensinogen-converting enzyme (ACE) inhibitors may be recommended. In the event of kidney failure, a procedure to remove toxins from the blood (dialysis) may be necessary. Kidney transplantation has been successfully performed in a growing number of individuals with Alström syndrome. However, the procedure can be contraindicated by other potential complications of the disorder such as morbid obesity, uncontrolled diabetes, or cardiomyopathy.

Hypertriglyceridemia may be treated with a low-fat diet or lipid-lowering medications.

Cardiac abnormalities may be treated with a variety of drugs including ACE inhibitors, which relax blood vessels, thereby lowering the blood pressure and minimizing the effort needed by the heart to pump blood throughout the body; drugs that reduce abnormal fluid retention by promoting the production and excretion of water and sodium from the body through the urine (diuretics); drugs such as digoxin that increase the efficiency of heart muscle contractions and produce a more regular heartbeat; and, in some cases, drugs that reduce the workload of the heart by blocking certain substances from binding to structures within the heart (beta-blockers). Rarely, a heart (cardiac) transplant has been successfully performed on individuals with Alström syndrome.

As children attain puberty, an evaluation should be performed to see whether hormonal adjustment therapy is necessary. For example, male hypogonadism should be treated with testosterone to preserve sexuality, muscle strength, and bone health. Individuals who have hypothyroidism may be treated with L-thyroxine, a type of thyroid hormone. Pediatric patients may be treated with recombinant growth hormone to promote their linear growth. Although controversial for Alstrom patients growth hormone therapy may benefit body composition (the balance between the fat mass and fat-free mass) and bone health. Some female disorders such as irregular menses, PCOS, and hyperandrogenism may be treated with estrogen and progestin. Female individuals with PCOS and who are overweight and have diabetes may benefit from treatment with diet, exercise, and insulin-sensitizing agents such as metformin.

A variety of techniques may be used to treat the complications of liver involvement. Portal hypertension may be treated with beta-blocker drugs. Sclerotherapy may be used to treat esophageal varices. Sclerotherapy is a procedure in which a solution, called a sclerosant or sclerosing agent, is injected directly into the affected veins of the throat and the areas adjacent to the affected veins. The solution injected into the veins causes blood clots to form in the veins stopping bleeding. The solution injected into the surrounding areas causes stops bleeding by thickening and swelling the vein to compress the blood vessel.

Banding (the application of rubber bands at the bleeding site) may be done to prevent bleeding in the upper gastrointestinal tract. Individuals who fail to respond to other methods may be candidates for transjugular intrahepatic portosystemic shunt (TIPS). During this procedure, a small metal device called a stent is placed into the liver creating an artificial passage from the portal vein to the hepatic vein, thereby improving blood flow. It can decrease the risk of variceal bleeding associated with portal hypertension. Some individuals with severe liver complications may be evaluated for liver transplantation.

Genetic counseling may be of benefit for affected individuals and their families. Another treatment is symptomatic and supportive.

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  • Write when the problem started and how it changed.
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Questions to ask

  • What is the most likely cause of my symptoms?
  • Which danger signs mean I should go to hospital quickly?
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Safe first steps

  • Avoid heavy lifting, sudden bending, and prolonged bed rest.
  • Use comfortable posture and gentle movement as tolerated.
  • Discuss physiotherapy, X-ray, or MRI only when clinically needed.

OTC medicine safety

  • For mild back pain, pain-relief medicine may be discussed with a doctor or pharmacist.
  • Avoid repeated painkiller use if you have kidney disease, stomach ulcer, uncontrolled blood pressure, or are taking blood thinners.

Avoid these mistakes

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Get urgent help if

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Doctor to discuss: Doctor / qualified healthcare provider
Tests to discuss with doctor
  • Basic vital signs: temperature, pulse, blood pressure, oxygen level if needed
  • Relevant blood, urine, imaging, or specialist tests only after clinical assessment
Questions to ask
  • What is the most likely cause of my symptoms?
  • Which warning signs mean I should go to emergency care?
  • Which tests are really needed now?
  • Which medicines are safe for my age, pregnancy status, allergy, kidney/liver/stomach condition, and current medicines?

Emergency warning signs such as chest pain, severe breathing difficulty, sudden weakness, confusion, severe dehydration, major injury, or loss of bladder/bowel control need urgent medical care. Do not wait for online information.

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Care roadmap for: Alström Syndrome

Use this simple roadmap to understand the next safe steps. It is educational and does not replace examination by a doctor.

Go to emergency care if you notice:
  • Severe or rapidly worsening symptoms
  • Breathing difficulty, chest pain, fainting, confusion, severe weakness, major injury, or severe dehydration
Doctor / service to discuss: Qualified healthcare provider; specialist depends on symptoms and examination.
  1. Step 1

    Check danger signs first

    If danger signs are present, seek emergency care and do not wait for online information.

  2. Step 2

    Record the symptom story

    Write when symptoms started, severity, medicines already taken, allergies, pregnancy status, and test results.

  3. Step 3

    Visit a qualified clinician

    A doctor, nurse, or qualified healthcare provider can examine you and decide which tests or treatment are needed.

  4. Step 4

    Do only useful tests

    Do tests after clinical assessment. Avoid unnecessary tests, random antibiotics, or repeated medicines without diagnosis.

  5. Step 5

    Follow up and return early if worse

    If symptoms worsen, new warning signs appear, or treatment is not helping, return for review quickly.

Rural patient practical tips
  • Take a written symptom diary and all previous prescriptions/test reports.
  • Do not hide medicines already taken, even herbal or over-the-counter medicines.
  • Ask which warning signs mean urgent referral to hospital.

This roadmap is for education. A real diagnosis and treatment plan requires history, examination, and clinical judgment.

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