'Flamingo Lady' and Others With Uncommon Medical Condition Stigmatized

Aug. 6, 2010 -- A woman in the United Kingdom is known as "flamingo lady" because an uncommon and debilitating medical condition makes it impossible for her to stand on both legs.

Joanne Day suffers from dystonia, a neurological condition that subjects its victims to involuntary muscle contractions and spasms, according to the British Daily Mail newspaper. An estimated 1 in 1,500 people in the U.K. (about 40,000) suffer from dystonia.

Because of the form she has, Day's left leg stays bent up toward her chest, so she's forced to stand on one leg, as flamingoes do for reasons that are not fully understood.

Dystonia is somewhat more common in the United States. An estimated 1 in 1,000 Americans (about 300,000) have dystonia, according to the Dystonia Medical Research Foundation, which makes it more common than more well-know conditions such as cystic fibrosis.

There are about 13 forms of dystonia and, so far, there's no cure for the condition.

Art Kessler of Chicago, who has lived with the condition for years and was diagnosed when he was 10, is quite familiar with the contortions and the pain caused by dystonia.

"My foot turned in, and then it progressed to my leg, and then my other leg, then my arms and then my back," said Kessler, 42, who is the president of the Dystonia Medical Research Foundation.

"My back would arch, which would put a lot of pressure on my lower spine. It was painful to walk. I could stand up straight, but it looked like a had a board stuck up my back when I walked."

Kessler said he remembers being teased when he was a child.

"They called me names and stuff," he said. "Kids can be nasty. It was tough to deal with."

For people who suffer from other symptoms of dystonia, such as involuntary eye closures or a contorted neck, it's stigmatizing.

"The general public doesn't recognize dystonia," said Dr. Cynthia Comella, professor of neurological sciences at Rush University Medical Center in Chicago. "These people are seen as odd or weird."

Kinds of Dystonia Vary, but Treatment Options Limited

While Day takes morphine to deal with the pain and has undergone more than 60 surgeries, Kessler opted for a much more radical approach. About four years ago, he underwent deep-brain stimulation.

Deep-brain stimulation is a surgical procedure that involves implanting a pacemaker into the brain. The device sends electrical impulses to different parts of the brain to help alleviate symptoms of movement disorders such as dystonia. Doctors say it's effective.

"It helps the muscles relax and, overall, there are dramatic improvements," said Dr. Ron Alterman, professor of neurosurgery at Mount Sinai School of Medicine in New York City.

Kessler said his symptoms are almost all gone, and he's able to play with his children, ages 6 and 3.

Deep-brain stimulation is FDA-approved for use in people with primary dystonia who are 7 and older. Primary dystonia is believed to be hereditary, with symptoms generally showing up in childhood and spread to different parts of the body. Primary dystonias do not respond to other treatments.

Adult-onset dystonia tends to be more localized, and is about 10 times more common than the generalized form seen in children.

"It begins in a particular area and tends to stay there and not spread," Rush University's Comella said. "It can happen in the neck, eyes and sometimes the vocal chords."

Comella said focal dystonias are much more prevalent, with cervical dystonia being among the most common.

"The neck is always turning and spasming," she said.

"Writer's cramp" is also a common focal dystonia.

Experts say there's no known cause for adult-onset dystonia but suspect there is a genetic component.

"In most people, there's a genetic susceptibility and then another trigger that causes it," Comella said.

Other than deep-brain stimulation, there are few effective options for treating symptoms of dystonia. Botox is one of them.

"With focal dystonia, botox injections can be used to release muscles," Alterman of Mount Sinai said. "It's used commonly for cervical dystonia or writer's cramp."

There are no FDA-approved oral medications for dystonia but doctors sometimes prescribe things such as anticholinergics, benzodiazepines and Baclofen, which may help alleviate spasms.

"In adults, these medications cause too many side effects and are usually not well-tolerated," Comella said.

Because the condition can be so disabling and there are so few options for treatment, experts and advocates hope for a lot more research.

"Our hope is we get a better understanding of what causes it and how to treat it," Kessler of the dystonia foundation said.

Comella said, "Research is sadly lacking, and there needs to be more attention paid to this disorder because it's more common than we think."