Alstrom Syndrome

Alström Syndrome was first discovered in the 1940s by Swedish doctor Carl-Henry Alström and his collegues. The work was formally publicized more than ten years later in 1959.

Alström Syndrome is a genetic mutation and hereditary disorder. Like many rare disorders, people may think that they can "catch it" by being near the affected person. This is not true. Alström is inherited, which means it cannot be spread like a cold or virus.

Alström patients have a mutated gene that is inherited from parents. There are arguments as to the exact number of verified cases, but it is classified as a rare disorder, meaning that there are less than 200,000 verified cases in the United States.

Genetics

Alström is not sex-linked, meaning that a boy and girl baby have equal chances of being affected. Both parents must have or carry the mutated gene for the child to inherit Alström Syndrome. (If only one parent is affected or is a carrier, there is no chance that the child will have it.) Each child that two carriers or affected parents create has a 25% (1 in 4) chance of having the condition and a 50% (1 in 2) chance of being a carrier, meaning he/she can pass it on but does not show symptoms.

Symptoms

Alström Syndrome affects multiple areas of the body. The most recognized symptoms include continued loss of hearing and vision, though many other symptoms may be present. Degeneration of the retina causes increased difficulty in vision, typically causing photophobia, or extreme sensitivity to bright light. Lowered nerve function of the ears may cause hearing loss as the victim ages. This can sometimes be corrected with a hearing aid. Those who have the condition may also have a short stature and be heavyset as compared to immediate family members.

Other health issues attributed to the syndrome are dilated cardiomyopathy (stretched and weakened heart muscles, which make pumping blood difficult), difficulty processing insulin, high cholesterol, kidney and/or liver failure, and more. These may be present in childhood or show up progressively with age.

Living with Alström Syndrome

Although there is no known cure or preventative therapy for A.S., there are ways to live a comfortable life. Children may suffer educational setbacks due to blindness or other issues that would inhibit learning, but can thrive with assistance from a teacher or aid who fully understands how to work with learning disabled children. A genetic counselor can help planning parents understand the chances of conceiving an affected child. Hearing aids and other medical advancements can help affected people lead productive lives.

An important thing to keep in mind is that, as the condition progresses, it is important to keep up doctor's visits and hearing and vision tests to keep current issues in check and catch new ones as they arise. By keeping check of medical issues as they come up, patients can stay on top of the condition and avoid letting it tear them down.

Alstrom.org
Disabled World
MedLine: Photophobia
WebMD: Dialated Cardiomyopathy