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Alström syndrome is a rare genetic disorder that affects many body systems. 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. Alström syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive manner. 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.
Source: GARD Last updated on 05-01-20
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.
Signs and symptoms may include:
Alström syndrome can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs.
Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Abnormal chorioretinal morphology |
| Cone/cone-rod dystrophy |
| Abnormal saccadic eye movements |
| Short stature |
| Minicore myopathy |
| Progressive sensorineural hearing impairment |
| Truncal obesity |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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.
Last updated on 05-01-20
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.
A table listing diagnostic criteria categorized by age is available through GeneReviews.
Last updated on 05-01-20
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.
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:
Last updated on 05-01-20
Progressive sensorineural hearing loss is found in 88% of individuals with Alström syndrome. About 10% of affected indivduals progress to profound deafness and must rely on sign language for communication.
Last updated on 05-01-20
In up to 70% of individuals with Alström syndrome, hearing loss becomes evident between ages one and ten years. The average age of onset is 9 years old but can range from 2 years to 25 years old. Hearing loss may progress to be more severe by the end of the first to second decade.
Last updated on 05-01-20
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.
Last updated on 05-01-20
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.
Treatment may include:
Alstrom Syndrome International offers a listing of recommended monitoring guidelines on their website. Click on the link for more information.
Last updated on 05-01-20
Alstrom Syndrome International, a supporting organization, offers information on Alström syndrome
Last updated on 04-27-20
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