Alström syndrome

Title

Other Names:

ALMS; ALSS; Alstrom's syndrome; ALMS; ALSS; Alstrom's syndrome; Alstrom syndrome See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Eye diseases; Heart Diseases; Kidney and Urinary Diseases See More

Summary Summary

Alström syndrome is a rare genetic disorder that affects many body systems.^[1]^[2] Symptoms develop gradually, beginning in infancy, and can be variable. In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease (cardiomyopathy). Over time, diabetes mellitus, liver problems, and slowly progressive kidney dysfunction which can lead to kidney failure may develop.^[2] Alström syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive manner.^[1] While there is no specific treatment for Alström syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan.^[2]^[3]

Last updated: 6/22/2016

Symptoms Symptoms

The signs and symptoms of Alström syndrome vary among affected individuals. The age that symptoms begin also varies. Symptoms may first appear anywhere from infancy to early adulthood.^[2]

Signs and symptoms may include:^[1]^[3]^[2]

Vision abnormalities, specifically cone-rod dystrophy and cataracts
Progressive sensorineural hearing loss in both ears and chronic infection or inflammation of the middle ear
Heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy)
Excessive eating (hyperphagia) and rapid weight gain leading to obesity
Insulin resistance leading to high levels of insulin in the blood (hyperinsulinemia) and type 2 diabetes mellitus
Elevated levels of fats (lipids) in the blood (hyperlipidemia)
Fatty liver that may progress to significant liver disease
Short stature
Skin findings including abnormally increased coloration and “velvety” thickening of the skin in certain areas of the body (acanthosis nigricans)
Lower hormone levels produced by the male testes or the female ovaries (hypogonadism)

Alström syndrome can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs.^[2]

Last updated: 6/22/2016

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Chorioretinal abnormality	Very frequent (present in 80%-99% of cases)
Cone/cone-rod dystrophy	Very frequent (present in 80%-99% of cases)
Progressive sensorineural hearing impairment	Very frequent (present in 80%-99% of cases)
Truncal obesity	Very frequent (present in 80%-99% of cases)
Acanthosis nigricans	Frequent (present in 30%-79% of cases)
Asthma	Frequent (present in 30%-79% of cases)
Blindness	Frequent (present in 30%-79% of cases)
Cataract	Frequent (present in 30%-79% of cases)
Chronic otitis media	Frequent (present in 30%-79% of cases)
Death in early adulthood	Frequent (present in 30%-79% of cases)
Dilated cardiomyopathy	Frequent (present in 30%-79% of cases)
Hyperinsulinemia	Frequent (present in 30%-79% of cases)
Hypertriglyceridemia	Frequent (present in 30%-79% of cases)
Insulin resistance	Frequent (present in 30%-79% of cases)
Nystagmus	Frequent (present in 30%-79% of cases)
Photophobia	Frequent (present in 30%-79% of cases)
Progressive visual loss	Frequent (present in 30%-79% of cases)
Pulmonary arterial hypertension	Frequent (present in 30%-79% of cases)
Recurrent respiratory infections	Frequent (present in 30%-79% of cases)
Respiratory insufficiency	Frequent (present in 30%-79% of cases)
Type II diabetes mellitus	Frequent (present in 30%-79% of cases)
Abnormality of adipose tissue	Occasional (present in 5%-29% of cases)
Abnormality of female external genitalia	Occasional (present in 5%-29% of cases)
Abnormality of the urethra	Occasional (present in 5%-29% of cases)
Alopecia	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the cerebellum	Occasional (present in 5%-29% of cases)
Autism	Occasional (present in 5%-29% of cases)
Chronic hepatic failure	Occasional (present in 5%-29% of cases)
Cirrhosis	Occasional (present in 5%-29% of cases)
Congestive heart failure	Occasional (present in 5%-29% of cases)
Decreased testicular size	Occasional (present in 5%-29% of cases)
Deeply set eye	Occasional (present in 5%-29% of cases)
Depression	Occasional (present in 5%-29% of cases)
Generalized hirsutism	Occasional (present in 5%-29% of cases)
Glomerulopathy	Occasional (present in 5%-29% of cases)
Hepatic steatosis	Occasional (present in 5%-29% of cases)
Hepatomegaly	Occasional (present in 5%-29% of cases)
Hypothyroidism	Occasional (present in 5%-29% of cases)
Intellectual disability	Occasional (present in 5%-29% of cases)
Male hypogonadism	Occasional (present in 5%-29% of cases)
Nephrocalcinosis	Occasional (present in 5%-29% of cases)
Obsessive-compulsive behavior	Occasional (present in 5%-29% of cases)
Polycystic ovaries	Occasional (present in 5%-29% of cases)
Portal hypertension	Occasional (present in 5%-29% of cases)
Precocious puberty	Occasional (present in 5%-29% of cases)
Pulmonary fibrosis	Occasional (present in 5%-29% of cases)
Renal insufficiency	Occasional (present in 5%-29% of cases)
Renovascular hypertension	Occasional (present in 5%-29% of cases)
Round face	Occasional (present in 5%-29% of cases)
Seizures	Occasional (present in 5%-29% of cases)
Splenomegaly	Occasional (present in 5%-29% of cases)
Tubulointerstitial nephritis	Occasional (present in 5%-29% of cases)
Vesicoureteral reflux	Occasional (present in 5%-29% of cases)
Abnormality of the hand	-
Abnormality of the teeth	-
Accelerated skeletal maturation	-
Atherosclerosis	-
Autosomal recessive inheritance	-
Chronic active hepatitis	-
Diabetes insipidus	-
Elevated hepatic transaminases	-
Gingivitis	-
Growth hormone deficiency	-
Gynecomastia	-
Hypergonadotropic hypogonadism	-
Hyperostosis frontalis interna	-
Hypertension	-
Hyperuricemia	-
Hypoalphalipoproteinemia	-
Insulin-resistant diabetes mellitus	-
Kyphosis	-
Menstrual irregularities	-
Multinodular goiter	-
Nephritis	-
Otitis media	-
Pes planus	-
Pigmentary retinopathy	-
Recurrent pneumonia	-
Scoliosis	-
Subcapsular cataract	-

Last updated: 5/8/2017

Inheritance Inheritance

Alström syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the ALMS1 gene in each cell.^[1]

Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

25% (1 in 4) chance to be affected
50% (1 in 2) chance to be an unaffected carrier like each parent
25% (1 in 4) chance to be unaffected and not be a carrier

Last updated: 6/14/2016

Diagnosis Diagnosis

Genetic testing of the ALMS1 gene is available for Alström syndrome. Although genetic testing is not necessary to make a diagnosis of Alström syndrome, it can be helpful to confirm a diagnosis. If a mutation is not identified in both copies of the ALMS1 gene of an individual suspected to have Alström syndrome, it does not rule out the diagnosis.^[4]

Last updated: 6/14/2016

Alström syndrome is diagnosed based on clinical findings (signs and symptoms), medical history, and family history. Making a diagnosis can be complicated by the variation in age of symptom onset from one individual to another. Genetic testing is not necessary to make the diagnosis of Alström syndrome, although it can be useful to confirm a diagnosis.^[4]^[2]

A table listing diagnostic criteria categorized by age is available through GeneReviews.

Last updated: 6/14/2016

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

There is no specific treatment for Alström syndrome. Treatment is focused on managing the symptoms present in each individual. This may involve a team of specialists including but not limited to: pediatricians, cardiologists, audiologists (hearing specialists), ophthalmologists, endocrinologists, and orthopaedists.^[2]

Treatment may include:^[2]^[4]

Specially-tinted, prescription glasses and vision aids to assist with vision loss
Hearing aids and cochlear implants for hearing loss
Dietary measures, exercise programs, and oral medications and/or insulin to control diabetes
ACE inhibitors and other medications to manage heart and kidney problems with some individuals requiring a kidney or heart transplant
Hormone therapy if the male testes or female ovaries produce lower than average levels

Alstrom Syndrome International offers a listing of recommended monitoring guidelines on their website. Click on the link for more information.

Last updated: 6/22/2016

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Prognosis Prognosis

The prognosis for Alström syndrome varies depending on the progression of symptoms, specifically heart and kidney disease. The lifespan and overall quality of life for individuals with Alström syndrome can be improved by early diagnosis, treatment, surveillance, and proper management of symptoms.^[3]^[5]

Last updated: 6/15/2016

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Alström syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Alstrom Syndrome International
14 Whitney Farm Road
Mount Desert, ME 04660
Toll-free: 800-371-3628
E-mail: info@alstrom.org
Website: http://www.alstrom.org

Social Networking Websites

RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Alstrom Syndrome International, a supporting organization, offers information on Alström syndrome
Genetics Home Reference (GHR) contains information on Alström syndrome. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Alström syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What percentage of patients with Alström syndrome become deaf? What is the average age of deafness? See answer

Have a question? Contact a GARD Information Specialist.

References References

Alström syndrome. Genetics Home Reference (GHR). September 2014; http://ghr.nlm.nih.gov/condition/alstrom-syndrome.
Jan D. Marshall. Alstrom Syndrome. National Organization for Rare Disorders (NORD). 2016; http://rarediseases.org/rare-diseases/alstrom-syndrome/.
J.D. Marshall, S. Beck, P. Maffei, J.K. Naggert. Alström syndrome. Orphanet. June 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64.
Marshall J, Paisey RB, Carey C, Macdermott S. Alström syndrome. GeneReviews. May 31, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1267/.
Stephanie Van Groenendael, Luca Giacovazzi, Fabian Davison, Oliver Holtkemper, Zexin Huang, Qiaoying Wang, Kay Parkinson, Timothy Barrett, Tarekegn Geberhiwot. High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease. Orphanet J Rare Dis. Nov 24 2015; 10(149):http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657378/.