Spotlight: Restless Leg Syndrome – Genetic Link Found in New Medical Research — Findings Point to Biology As One Cause of Movements, Not the Sufferer’s Imagination

By Mike Strobbe Associated Press

ATLANTA – Scientists have linked certain genes to restless legs syndrome, suggesting the twitching condition is biologically based and not an imaginary disorder.

New studies

Breakthrough: New studies published this week in two top medical journals are being called the first to identify specific genes responsible for restless legs syndrome symptoms.

Journal: Research in the New England Journal of Medicine, linked a common gene variation to nighttime leg-twitching. It involved people in Iceland and the United States.

Magazine: A second study in Nature Genetics identified the same gene variation and two others in Germans and Canadians with restless legs syndrome.

“This discovery demonstrates the power of genetics not only for uncovering the biological causes of disease, but also for defining diseases such as RLS and establishing them as medical conditions,” said Dr. Kari Stefansson, in a prepared statement. Stefansson is a prominent Icelandic scientist who co-authored the New England Journal study.

The syndrome

Gotta move: Restless legs syndrome is a neurological condition characterized by an irresistible urge to move the legs. Sufferers say it often hits at night, preventing them from sleeping.

“It feels like something crawling inside your legs, biting on you,” said Betty Shaw, a 68-year-old florist in Covington, Ga., who was diagnosed with it. So was her 43-year-old daughter.

Requip: It’s commonly treated with two government-approved drugs, including the heavily advertised Requip, made by GlaxoSmithKline PLC.

Full explanation needed

More research is needed to develop a full explanation of the causes of restless legs syndrome.

Gene variation common: The New England Journal study indicates as many as 65 percent of adults carry the gene variation that can lead to symptoms, said Dr. David Rye, an Emory University neurologist who was another co-author.

“People making the argument that this can’t be very common – that’s just gone,” said Rye, who himself has restless legs.

Oh yeah?

Some disagree.

Skeptic: The syndrome is diagnosed through symptoms like periodic limb movements in sleep, but lots of people may have limb movements without having the condition, noted Dr. Steven Woloshin, a Dartmouth Medical School researcher who has argued the diagnosis is overhyped.

Not so common: He argues that the best evidence puts the U.S. prevalence of restless legs at under 3 percent, less than common estimates of 10 percent. The new work doesn’t pin down what the condition is, who has it, or what medication is needed, he said.

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