Condition Literally Leaves You Scared Stiff

March 26, 2010— -- Karen Snyder used to laugh at her hyperekplexia. Like the obscure breed of "fainting goats" that fall down at any small startle, Snyder will crash to the floor with completely stiff limbs at a knock at the door or a tap on her shoulder.

Seconds later, Snyder's stiff body will relax and she can assess whatever damage has been done.

"I've knocked over displays in stores before. You can't control where you're going to get startled," said Snyder, 34, of Chico, Ariz. "Making cupcakes, I went down with a bag of frosting recently."

"I honestly hold hands with a lot of people these days just to try and stay upwards. It's a weird situation," she said. "I throw anything I'm holding and just fall to the floor."

Snyder first fell at a shock at the age of 19 when someone came into the bathroom while she was in the shower.

"My body jumps just like anybody else's body would jump. ... It's not really a sensation at all. It takes all of a second," said Snyder. "There's no voluntary movement that's available to you but at the same time you're totally conscious."

Snyder used to laugh at her mysterious condition, but as the years went on her sensitivity increased and the falls started happening several times a week. Eventually, she lost her job.

"It started happen at work, and my bosses were stressed out and said they had to have a doctor say I was cleared to work," said Snyder. "I couldn't do that because they [the doctors] didn't know what was going on."

Twelve years after her first fall, Snyder was diagnosed with hyperekplexia, one of the "startle syndromes" known to run in families.

The condition is so rare that experts can't even estimate how many people have hyperekplexia.

People With Hyperekplexia Unite

Yet, through Facebook and other social networking sites, families affected by hyperekplexia are starting to unite. Snyder and others recently started The Hyperekplexia Society, and more people are coming to the few doctors who specialize in hyperekplexia for diagnosis.

Snyder even sent a blood sample for analysis to Dr. Rhys Thomas and colleagues at Swansea University in the United Kingdom.

Startle Syndrome Can Start at Birth

Thomas said Snyder's late-onset hyperekplexia is an unusual case.

"The normal story is that you get diagnosed in birth and it may or may not run in your family," said Thomas.

Babies born with hyperekplexia have a very tough time in the first year of life. Thomas said the exaggerated startle reaction can come at any moment -- triggered by baths or putting a jacket on a child. Children's limbs may be stiff without being startled and toddlers can have trouble walking.

Some children also have learning disabilities or a mild form of autism associated with the condition. But the most serious concern is a child's ability to breathe during a severe startle.

"In very young children, they often get repeated breath-holding, what we call apnea attacks in the first year of life," said Thomas. "They go blue and the parents get very worried, and they take a very big breath at the end."

Parents can try to minimize loud noises in the home, but Thomas pointed out that even expected loud noises can cause the reaction -- such as fireworks on the Fourth of July.

In fact, Dr. Mark Hallett explained, repeated startle responses to an expected jolt is one of the hallmarks of the disorder.

"It can be [an] auditory or tactile or visual trigger -- and it's a system- or body-wide response, with different muscular responses through the body," said Hallett. "A patient with startle syndrome continues to have an exaggerated response even as the surprise ends."

Why One Person's Startled Reaction Can't End

There is no cure for the startle syndrome, but scientists say they understand it: Gene mutations work to prevent a chemical communication between nerves that calm the body down. Both the GABA and the glycine receptors work as "breaks" to the nervous system, but people with hyperekplexia can't get the signals from glycine.

"The glycine system acts like a break, and the [mutated] gene stops the system from working," said Thomas.

Doctors have discovered some of the genetic mutations that cause the condition.

Genetic Mutations Are Behind Startle Syndromes

Rita Shiang of the Department of Human and Molecular Genetics at Virginia Commonwealth University in Richmond, Va., part of the team that discovered the first gene associated with hyperekplexia in 1993, said she's not surprised scientists haven't found a cure yet.

"It's very hard to come up with a treatment [after finding a gene]," she said. "It takes a long time to figure out what's going on.

"People are always asking why you [would] study a rare disorder," she said. "But the more you know about these pathways, the more you understand about common disorders."

For the moment, many people with hyperekplexia can be treated with a very common drug: clonazepam, a member of the class of drugs called benzodiazepines that includes Valium.

Hallett said clonazepam works by increasing the effects of an alternative "breaking system" within the body: the GABA receptors.

Thomas said drinking [moderate amounts] of alcohol also can decrease symptoms.

"In the U.K., if [affected] people go out to a football game, they have to have a couple of drinks beforehand so they're not jumping all over the place," he said.

Unfortunately for Snyder, such drugs haven't worked. But she found networking with others has been therapeutic because hyperekplexia is so isolating.

"It can happen anywhere and everywhere. It's a scary thing to leave the house," said Snyder. "For the most part, I try to avoid going into public unless I have someone who I trust."