World Alström Syndrome Day Date in the current year: May 3, 2025

Alström Syndrome (AS) is a genetic disorder caused by a mutation in the ALMS1 gene that affects the formation of the cilia – organelles found in most types of human cells that play an important role in the transmission of chemical and physical signals through cells. The syndrome is named after the Swedish psychiatrist Carl-Henry Alström, who first described it.

Alström syndrome is an autosomal recessive genetic disorder, which means that children with AS have inherited a mutated copy of the gene from both parents while the parents themselves may be unaffected.

Alström syndrome primarily affects the endocrine system, vision, and hearing. Its main symptoms include

• Childhood obesity and insulin resistance
• Retinal degeneration (retinopathy): progressive damage to the retina
• Nystagmus: involuntary rapid eye movements
• Photophobia: extreme sensitivity to light
• Mild to moderate sensorineural hearing loss: hearing loss caused by problems with the inner ear

Other symptoms include early-onset type 2 diabetes mellitus, dilated cardiomyopathy (an enlarged heart that cannot pump blood properly), developmental delay, learning disabilities, liver and kidney problems, bowel and bladder problems, and hypertriglyceridemia (high levels of fat in the blood). It is important to note that not all patients with Alström syndrome have all the symptoms and that different symptoms may develop at different stages of life.

Although some symptoms of Alström syndrome, such as eye and heart problems, manifest in infancy, the disease is often diagnosed later in life because the syndrome is very rare and doctors tend to view its symptoms as separate problems. In addition, the only sure way to confirm the diagnosis is through genetic testing, which is expensive and not always available.

There is no cure for Alström syndrome, and treatment focuses on managing individual symptoms, preventing complications, and improving overall quality of life. It may include tinted lenses for patients with photosensitivity, hearing aids, an appropriate diet to reduce the risk of obesity and diabetes, occupational therapy, educational accommodations for patients with learning disabilities, medications to manage diabetes, triglyceride levels, and/or cardiomyopathy, etc. Later in life, patients who develop kidney complications may require dialysis or a kidney transplant.

Each patient with Alström syndrome has a unique prognosis because the symptoms and their severity vary greatly from patient to patient. In severe cases, permanent deafness, blindness, and liver or kidney failure may occur. In general, life expectancy for patients with Alström syndrome is rarely more than 50 years.

World Alström Syndrome Day was created to raise awareness of this rare disease, to bring together patients, their families, doctors and researchers, and to advocate for research into a cure. The date, May 3rd, was chosen to commemorate the birthday of Carl-Henry Alström.