Alström syndrome

Alström syndrome is a rare autosomal recessive disorder characterized by congenital rod dystrophy, type II diabetes mellitus, dilated cardiomyopathy, deafness, hyperinsulinemia, obesity, insulin resistance, and progressive renal and hepatic dysfunction.

Many organ systems of the body have more symptoms in old age. Already in childhood, patients develop photophobia and nystagmus. This vision disorder usually leads to blindness in the second year. The severity of the symptoms varies greatly.

Common symptoms include progressive sensorineural hearing loss, dilated cardiomyopathy, hypertension, slow progressive nephropathy, chronic respiratory disease, hypertriglyceridemia and a risk of sudden heart failure in every age group.

The child patients' feet are strikingly flat, thick and wide and the fingers and toes are very short and stubby. The patients have very thin hair, often a premature bald head, a round face, and deep-set eyes.

The causes are not fully understood yet, but the disease is triggered by mutations in the gene ALMS1, which is located on chromosome 2p31. Inheritance is autosomal recessive. Patients rarely live more than 40 years.