What is Alström syndrome?
Alström syndrome is a rare genetic disorder that affects multiple organ systems in the body. It was first described in 1959 by Swedish physician Carl-Henry Alström, after whom the condition is named. The disorder is caused by a mutation in the ALMS1 gene, which disrupts normal cellular function and leads to progressive health complications.
Although there are several typical symptoms associated with Alström syndrome, every patient is unique. Not all individuals experience the same manifestations, and the severity of the condition can vary greatly.
Vision
One of the first symptoms of Alström syndrome, which appears as early as infancy, is extreme sensitivity to light (photophobia) and rapid eye movements (nystagmus). These symptoms are caused by the gradual degeneration of the retina, which contains the light-sensitive cells known as photoreceptors.
The retina is a layer at the back of the eye that captures light and sends visual information to the brain through the optic nerve. The photoreceptors responsible for color perception and clear vision in bright light are called cones. In Alström syndrome, these cones are the first to degenerate. The rods, which allow vision in low light, may continue to function for a while but gradually deteriorate with age.
This condition is known as cone-rod dystrophy and is sometimes misdiagnosed as retinitis pigmentosa. Vision progressively worsens during childhood, and by adolescence, individuals with Alström syndrome usually have very limited or no remaining vision.
If your child has been diagnosed with, or is suspected to have, Alström syndrome, it is important to anticipate possible vision loss and begin Braille education and mobility training as early as possible.
Hearing
People with Alström syndrome may begin to lose their hearing in childhood or later in adulthood. This type of hearing loss is called sensorineural hearing loss, meaning there is damage to the nerve function, and sound information does not properly reach the brain for processing.
Most individuals with Alström syndrome benefit from hearing aids, which amplify sounds and improve perception. In some cases, cochlear implants have also been successful, allowing for better sound recognition when hearing loss is more severe.
If your child has been diagnosed with, or is suspected to have, Alström syndrome, it is very important to undergo regular hearing tests to detect any deterioration early and provide the necessary support.
The retina is a layer at the back of the eye that captures light and sends visual information to the brain through the optic nerve. The photoreceptors responsible for color perception and sharp vision in bright light are called cones. In Alström syndrome, these cones gradually degenerate first. The rods, which allow vision in dim light, may initially function longer, but their performance also declines with age.
This condition is known as cone-rod dystrophy and is sometimes misdiagnosed as retinitis pigmentosa. Vision gradually worsens throughout childhood, and by adolescence, individuals with Alström syndrome are left with very limited or no vision at all.
If your child has been diagnosed with, or is suspected to have, Alström syndrome, it is important to plan for potential vision loss and begin Braille education and mobility training as early as possible.
Physical growth
Children with Alström syndrome are often more prone to being overweight compared to their peers or family members. During childhood, their growth typically follows a normal pattern, but after puberty, it slows down and eventually stops.
As a result, adults with Alström syndrome tend to be shorter in stature than the average population.
Heart
Intelligence
People with Alström syndrome generally have the same level of intelligence as their family members. However, their learning process may be affected by visual and hearing impairments, which can make it more difficult to acquire new information.
Many children also experience mild developmental delays, such as slower speech development or motor skill progression. With the right support and adapted educational methods, these challenges can be overcome, allowing the child to fully develop their potential.
Type 2 diabetes
Children and adolescents with Alström syndrome may develop type 2 diabetes because their bodies do not process insulin and glucose properly. These children are insulin resistant, meaning their cells do not respond to insulin as they should, which leads to elevated blood sugar levels.
People with Alström syndrome who have type 2 diabetes do not always require insulin, but they typically need medication to manage blood sugar levels. A strict diet low in calories and refined carbohydrates is also an essential part of care.
Increasing physical activity is another key component in preventing and managing diabetes. Although vision loss can make movement more challenging, it is important to find safe and accessible ways to encourage regular exercise — helping to maintain healthy blood sugar levels and overall fitness.
Blood lipids
People with Alström syndrome often have elevated levels of fats in the blood, particularly cholesterol and triglycerides. This condition can increase the risk of heart disease and circulatory problems.
If necessary, a doctor may prescribe medication to regulate blood lipid levels, while a healthy diet and regular physical activity also play a key role in keeping cholesterol and triglyceride levels under control.
Liver and kidneys
In people with Alström syndrome, the liver and kidneys are often affected, and their function may gradually decline over time. The first signs of problems usually appear in late adolescence, which is why it’s important to monitor these organs regularly through blood tests at least once a year.
In adulthood, damage to the liver or kidneys can lead to serious health complications. Early diagnosis and regular monitoring can help slow the progression of the disease and improve overall quality of life.
Other health complications
Alström syndrome can also cause other health problems that may develop gradually in some individuals. The most common include:
Spinal curvature
Digestive problems
Breathing difficulties
High blood pressure
Thyroid disorders
Because this condition affects multiple organs, regular medical care is essential. It is important to monitor all symptoms and follow medical recommendations to manage health complications as effectively as possible.
References used:
Marshall JD, Maffei P, Collin GB, Naggert JK. (2011): Alström syndrome: genetics and clinical overview. Curr Genomics. 2011 May;12(3):225-35. doi: 10.2174/138920211795677912.
Marshall JD, Maffei P, Beck S, Barrett TG, Paisey RB. (2011): Clinical utility gene card for: Alström syndrome. Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.72.
Girard D, Petrovsky N. (2011): Alström syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol. 2011 Feb;7(2):77-88. doi: 10.1038/nrendo.2010.210.
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