Mysterious disorder a 'life sentence'

Story highlights

  • Dystonia is often cloaked in mystery and difficult to diagnose
  • Though it's the third most common movement disorder, few people understand it
  • Dystonia's cause is mostly unknown, and there is no cure for it
  • "You don't die from dystonia," one woman says, "but you want to"
Lori Raines and her mother were hunting for deals at post-Christmas sales in 2009 when Raines' left leg involuntarily turned inward and an excruciating pain shot through it.
At first, she thought the pain was the result of a 2005 operation to fix a herniated disc in her lower back.
It wasn't.
As a massage therapist, yoga instructor, aspiring artist and mother, she could not afford to lose mobility. But within a couple of days, Raines was practically bedridden.
She began taking a number of medicines and steroids that changed her personality, caused friends to abandon her and destroyed her marriage.
But nothing stopped the pain or involuntary movement in her leg.
"I lost everything," she says.
Finally, eight months and about 30 doctors' opinions later, she was diagnosed with dystonia, a little-known but the third most common movement disorder.
"If you have something invisible going on, then it's all subjective," the 41-year-old says. "Dystonia doesn't show up on MRIs and it doesn't show up on tests."
Raines hasn't been able to work, slowly watching dystonia spread from her legs to her arms to her neck. Forced to get around on crutches or in a power chair, the former dancer is mostly confined to her Hendersonville, North Carolina, home.
"You don't die from dystonia," she says. "But you want to. It's sort of like a life sentence, as opposed to a death sentence."
Dystonia is often cloaked in mystery and can take years to diagnose. In most cases, dystonia's cause is unknown, and there is no cure. Patients and medical professionals agree dystonia awareness lags far behind other movement disorders such as Parkinson's disease and multiple sclerosis.
Dystonia is "characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both," according to the article "Phenomenology and classification of dystonia: A consensus update," published this year by an international panel of dystonia researchers.
Dystonia can be divided into primary and secondary types, says Dr. H.A. Jinnah, director of the Dystonia Coalition and professor in the department of neurology, pediatrics and human genetics at Emory University. It is difficult to quantify exactly how many people suffer from it.
Under the National Institutes of Health guidelines, Jinnah says pure or primary dystonia is identified as a rare disorder, but mixed or secondary dystonia occurs frequently. Combining the two classifications makes dystonia a common disorder, he says, "because we would have to include cerebral palsy, Parkinson's disease and a whole load of others."
There are two common treatments for dystonia; neurotoxin injections, such as Botox, and deep brain stimulation, which requires an operation to place a neurostimulator in the brain. The stimulator sends electrical currents to parts of the brain that control muscle movement.
Certain forms of dystonia have been linked to genetics, environmental or brain damage. But scientists are