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Scientists Find Genetic Link for a Disorder (Next, Respect?)
NY Times ^ | July 19, 2007 | NICHOLAS WADE

Posted on 07/20/2007 1:51:27 AM PDT by neverdem

Imagine you keep waking up with a fierce urge to move your legs, each time further eroding your sleep quota and your partner’s patience. You have restless legs syndrome, a quaintly named disorder whose sufferers may get more respect now that its genetic basis has been identified.

Two independent teams, one in Germany and one in Iceland, have identified three variant sites on the human genome which predispose people to the condition. The advance should help scientists understand the biological basis of the disorder, which could lead to new ideas for treatment.

The new findings may also make restless legs syndrome easier to define, resolving disputes about how prevalent it really is. The disorder is a “case study of how the media helps make people sick,” two researchers at Dartmouth Medical School, Steven Woloshin and Lisa Schwartz, wrote recently in the journal PLoS Medicine. They argued that its prevalence had been exaggerated by pharmaceutical companies and uncritical newspaper articles, and that giving people diagnoses and powerful drugs were serious downsides of defining the elusive syndrome too broadly.

Discovery of the genetic basis of the disorder “puts restless legs syndrome on a firmer footing,” said Dr. Christopher Earley, a physician at Johns Hopkins University who treats the malady.

Dr. Woloshin said that he “wouldn’t change a thing” in his article. He fears the new reports “will be used to validate restless legs syndrome as a highly prevalent disease,” he...

--snip--

Many human genes were first described by geneticists who identified counterpart genes in the laboratory fruitfly. Fruitfly researchers consider it a matter of pride to give genes colorful names, but these are often moderated or disguised by medical researchers who feel absurd names will not help attract research funds. BTBD9, the gene in today’s two studies, stands for broad complex-tramtrack-bric-a-brac-domain 9.

(Excerpt) Read more at nytimes.com ...


TOPICS: Culture/Society; News/Current Events
KEYWORDS: genetics; health; heredity; medicine
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Giving Legs to Restless Legs: A Case Study of How the Media Helps Make People Sick

A Genetic Risk Factor for Periodic Limb Movements in Sleep FReebie

1 posted on 07/20/2007 1:51:29 AM PDT by neverdem
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To: neverdem
My wife has had Restless Legs Syndrome (RLS) for many years. She described the symptoms to me long ago, but I couldn't relate them to anything. (I am an M.D.) When I first read about RLS, I recognized it immediately as what she had been describing all those years.

She describes it as a feeling, in both legs, of discomfort that is not quite pain. It happens mostly at night, but not exclusively, if my understanding is correct. It helps to move the legs or get up and walk around, but in the middle of the night this, of course, interferes with sleep. She doesn't feel this all the time. It seems to come and go. An attack is brought on or made worse by exercize, which is bad because she loves to exercize, particularly hiking and mountain climbing. When she feels the discomfort, having something on her legs, such as a blanket, makes it worse.

The symptoms are not so severe as to be debilitating, and she does not describe them as pain, but the Syndrome has made her very uncomfortable many nights for a long time.

2 posted on 07/20/2007 2:12:26 AM PDT by Savage Beast ("There is nothing worse for power grabbing politicians than an energized electorate." Laura Ingraham)
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To: Savage Beast
They argued that its prevalence had been exaggerated by pharmaceutical companies and uncritical newspaper articles, and that giving people diagnoses and powerful drugs were serious downsides of defining the elusive syndrome too broadly.

So is there a test for this problem (i.e. does it show up on an EMG)...or is the diagnosis purely subjective? And what are the "powerful" drugs the article speaks of?

3 posted on 07/20/2007 2:20:18 AM PDT by dawn53
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To: dawn53

There’s no test available now. Diagnosis is based on clinical evaluation, mostly symptoms. I haven’t looked into the drugs because my wife’s symptoms are not sufficient for her to seek therapy, and I don’t work in that area. The genetic study described in the article could be diagnostic, but it’s not routine or generally available.


4 posted on 07/20/2007 2:35:29 AM PDT by Savage Beast ("There is nothing worse for power grabbing politicians than an energized electorate." Laura Ingraham)
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To: Savage Beast

Thanks for the info.


5 posted on 07/20/2007 2:44:20 AM PDT by dawn53
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To: Savage Beast

I experienced this during my pregnancy 31 years ago. I told someone that if I could just take my legs off at night I could sleep well. After our son was born, no more problems. I feel for anyone who has it.


6 posted on 07/20/2007 4:21:00 AM PDT by sibb1213
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To: sibb1213

I had this when I was pregnant, too. I found that putting my legs on a pillow helped, (elevating them). I think it has something to do with circulation.


7 posted on 07/20/2007 4:34:53 AM PDT by sportutegrl
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To: Savage Beast
I’ve had a few bouts with a mild version of it, and I believe it is related to diet. I have never had it consistently enough to figure out exactly what brings it on, but suspect refined carbohydrates may be indicated.
8 posted on 07/20/2007 6:24:31 AM PDT by oldcomputerguy
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To: dawn53

I don’t know if the diagnosis is subjective or not, but I worked with a woman who had it. Some days she came in looking terrible, and you could tell she hadn’t gotten any sleep. She said it was just annoying, but it really affected her performance at work. She had tried taking sleeping pills, but said they didn’t work at all.


9 posted on 07/20/2007 8:26:34 AM PDT by ga medic
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To: sibb1213

I have never heard of it as a transient thing during pregnancy. That’s very interesting. ~S


10 posted on 07/20/2007 7:21:49 PM PDT by Savage Beast ("There is nothing worse for power grabbing politicians than an energized electorate." Laura Ingraham)
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To: oldcomputerguy

By refined carbohydrates do you mean mainly sugar, flour, bread? Maybe I’ll get my wife to alter her diet and see what happens.


11 posted on 07/20/2007 7:25:57 PM PDT by Savage Beast ("There is nothing worse for power grabbing politicians than an energized electorate." Laura Ingraham)
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To: Savage Beast

I never experienced it after my son was born and I was so glad. I know friends who have suffered for years and are on different meds. What ever works.


12 posted on 07/20/2007 8:56:03 PM PDT by sibb1213
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To: sportutegrl

That could be the case. At the time I was developing toxcima and swelling like a pig. The RLS could have been
related. I never mentioned the RLS to my doctor because there was so much going on and I never related the two. Remember, it was 31 years ago and all this was so new.
I hope you got relief.


13 posted on 07/20/2007 9:00:04 PM PDT by sibb1213
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To: El Gato; Ernest_at_the_Beach; Robert A. Cook, PE; lepton; LadyDoc; jb6; tiamat; PGalt; Dianna; ...
Near Miss by Hurricane Can Bring a Big Chill to Overheated Coral Reefs

How the LHC came to be Large Hadron Collider

Beyond the standard model with the LHC

FReepmail me if you want on or off my health and science ping list. Anyone can post any unposted link as they see fit.

14 posted on 07/20/2007 11:14:46 PM PDT by neverdem (Call talk radio. We need a Constitutional Amendment for Congressional term limits. Let's Roll!)
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To: Savage Beast

Sleeping bags are torture for those with RLS.


15 posted on 07/20/2007 11:30:02 PM PDT by Martins kid
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To: Savage Beast
In my own case, I strongly suspect that RLS has it's root in inflammation. I occasionally receive shots of Kenalog for another condition and the RLS clears up until the shot wears off. Ibuprofen, two shots of strong alcohol and a 20 minute ice pack on my lower back can usually get me through all but the worst nights.

(And yeah. It's miserable. Here's the best way I can describe it: You know that sensation that forces you to stretch? Imagine that that feeling lasts for a few days and no amount of stretching or walking brings relief. How long could you go before you considered cutting off a leg?)

A human being can take five minutes of "9" on the pain scale better than they can take five days of "3". It wears you down.

16 posted on 07/20/2007 11:54:07 PM PDT by Marie (Unintended consequences.)
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To: Savage Beast; oldcomputerguy
I am quite surprised by the repsonses so far. Usually the scoffers here on FR can't wait to deride those of us who have this syndrome.

I get it sometimes. It's horrible. It takes about an hour of constant mild pain to finally go to sleep.

I take ibuprofen or I get up and walk around. I notice that it's less frequent if I have exercised during that day. Like running or doing leg exercises with weights.

The refined sugar is an interesting idea. I tend to eat ice cream before I go to bed.

17 posted on 07/21/2007 2:49:59 AM PDT by raybbr (You think it's bad now - wait till the anchor babies start to vote.)
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To: raybbr
I tend to eat ice cream before I go to bed.

Try stopping the ice cream and see what happens.

18 posted on 07/21/2007 3:14:33 AM PDT by neverdem (Call talk radio. We need a Constitutional Amendment for Congressional term limits. Let's Roll!)
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To: neverdem

WalMart has in the vitamin section a homeopathic remedy. It is called Restful Legs and it works for me 50% of the time. Put two tabs under tongue.

I am on Prednisone and now Imuran too for IBD and still get restless legs; so I doubt that it is an inflamatory process. But I am not a doctor or medical person.


19 posted on 07/21/2007 3:51:12 PM PDT by ncpatriot
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To: ncpatriot

Lots of Iron has been shown in studies to help folks with RLS... even if their blood iron levels are considered normal.


20 posted on 07/21/2007 3:55:01 PM PDT by HamiltonJay
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