Alström syndrome is a rare inherited disorder characterized by blindness, juvenile onset diabetes mellitus, obesity, and deafness. In some cases, people with Alström syndrome also experience developmental delay, academic difficulties, and problems with language skills. However, these deficits may partially be a result of the severe sensory deficits characteristic of the syndrome. Alström syndrome is progressive, meaning children develop more symptoms as they get older.
Alström syndrome usually begins during infancy and progresses throughout childhood. This disorder is very rare, with only a few hundred cases reported in medical literature since its discovery in 1959. There is a higher incidence of Alström syndrome in Holland and Sweden.
Signs and Symptoms
Individuals with Alström syndrome may present with some or all of the following symptoms:
1. Extreme light sensitivity (photophobia) and wobbling of the eyes (nystagmus) during infancy.
2. Degeneration of the retina (retinopathy) leading to severe vision impairment or blindness in infancy.
3. Symptoms of juvenile onset diabetes mellitus (Type 2 diabetes mellitus).
4. Insulin resistance.
5. Childhood obesity.
6. Deafness or moderate hearing loss.
7. Dysfunctioning of the heart muscle (dilated cardiomyopathy) possibly leading to heart problems in infancy or early adulthood.
8. Progressive kidney problems (i.e. chronic nephropathy).
9. Dark patches of skin (called acanthosis nigricans).
The progressive visual impairment, photophobia, and nystagmus start between birth and 15 months of age and children usually have no light perception by 20 years of age. Infants usually have normal birth weight but become obese during the first year of life, resulting in childhood obesity. Progressive hearing loss typically presents in the first decade in up to 70% of children. Hearing loss may progress to the moderately severe range by the end of the first to second decade. Up to 60% of patients with Alström syndrome develop cardiac failure as a result of dilated cardiomyopathy at some stage of their lives. About 50% of patients have developmental delay early in childhood.
Alström syndrome is an autosomal recessive genetic disorder, which means that a child will develop the condition if he or she inherits two altered copies of a gene, one from each parent. The mutated gene responsible for Alström syndrome is called the ALMS1 gene, which is found on chromosome 2.
Diagnosis for patients with Alström syndrome involves blood tests, urine tests, and eye exams. The blood test may reveal high blood sugar levels (hyperglycemia) and an elevated serum triglyceride level. The urine test may show an increase in uric acid levels. An eye examination may be done by an ophthalmologist to assess the general health of the eyes and to see if there is any degeneration of the retina.
At this time, there is no known cure for Alström syndrome, although research for the disorder is ongoing. Therefore, treatment for patients with Alström syndrome will involve managing the symptoms. For example, the Type 2 diabetes mellitus will need to be treated through diet changes, medication, and insulin. Cardiac problems may need medication, surgical intervention, or possibly heart transplantation. Alström syndrome affects many organs, and can vary among individuals. Thus, each problem will need to be addressed individually.
The prognosis for patients with Alström syndrome is highly variable. Most individuals develop permanent blindness. Also, some may develop complications related to having diabetes mellitus.
Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.
Alström Syndrome Canada
A great overview of the disease with web links to other sites.
Alström Syndrome International
Nice summary of the disease with great information about ingoing research and clinical trials.
Alström Syndrome United Kingdom: Support Group
A summary of clinical features of the disease with some information about local support.
The Society of Alstrom Syndrome Families
No website. Telephone: (215)674-1936