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    Thursday, July 19, 2007

    Take That, Ye Doubters: The news that Restless Leg Syndrome may have a genetic link has resulted in news stories that start off with an odd assumption:

    Often disregarded as a fake illness, RLS gained new ground in the scientific community this week after researchers at Emory University in Atlanta and the Iceland-based company DeCODE Genetics identified a gene variant that increases risk for the condition. The team reported their findings in the current issue of the New England Journal of Medicine. Those findings, along with a separate study published simultaneously in Nature Genetics, which found variants in three genes linked with RLS, suggest that RLS is a both a genuine syndrome and one that can be treated more effectively.

    "Often disregarded as a fake illness." The article also goes on to say that the disorder is often not mentioned in medical schools. Says who? Here it is in the table of contents of one of the most widely used medicine textbooks in the United States. Even when I was a medical student over twenty years ago (shudder), it was presented as a disorder of unknown etiology with no good treatment.

    When a condition is not life threatening and has no successful treatment, practicing physicians tend not to spend too much time on it. That may come across sometimes as uncaring or unfeeling, but it's not the same as thinking a condition isn't real. We have more treatment options today than we had twenty or even ten years ago for restless leg syndrome, but it remains difficult to eliminate completely. (And what do you know, that last link was to a review article in a medical journal with references to other medical journals, all of which take the condition quite seriously.)

    So please, stop pretending that this is an orphan condition that's been ignored by mainstream medicine, even if that particular narrative makes it easier to disease-monger.

    UPDATE: Here's the paper describing the genetics of restless leg syndrome. The researchers sampled the DNA of patients with restless leg syndrome and their relatives and found a high frequency of a mutation among those with restless leg syndrome. Having the mutation results in a 50% risk of having restless leg syndrome. Interestingly, the genetic marker was also associated with lower serum ferritin levels, which has been implicated in restless leg syndrome.

    It's very likely that understanding the cause of restless leg syndrome, and ultimately finding an effective treatment, will lie in reaching a better understanding of the physiology of ferritin.

    posted by Sydney on 7/19/2007 01:08:00 PM 1 comments


    Weird. My husband was diagnosed with it, and no one treated him like it wasn't real. :P It was associated with his sleep apnea, I think, since it got better once he had a CPAP. (My guess is he just twitches when he can't breathe... seems like a reasonable reaction to me! :D)

    By Anonymous Anonymous, at 3:03 PM  

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