A rare neurological disorder that affects about one or two people per million is in the spotlight in the wake of an emotional social media post by pop star C├йline Dion, who described her challenges with stiff-person syndrome.
Dion, 54,┬аsays she’s been forced to cancel shows after years of struggling with muscle spasms and other health problems related to the debilitating neurological condition.
Because of its rarity, very few experts can speak knowledgeably on the disorder.
John Hopkins Medicine,┬аa facility in Baltimore, Md., has a┬аStiff Person Treatment Center. In a video explainer on the facility’s website,┬аDr. Scott Newsome, a neurologist at Johns Hopkins Medicine, says the syndrome is a very rare but “devastating” autoimmune disease. There’s no clear cause, and the disorder is still┬аbeing researched.
How does it affect people?
In the video, Newsome says the progressive condition shows up initially as a painful rigidity in muscles, causing spasms and imbalance. Newsome says┬аthe syndrome often causes a rigidity in the torso, lower back, abdominal and leg areas,┬аaffecting gait and balance.”
Just walking down the street, they could have a spasm and fall,” Newsome explains.
Sufferers are sensitive тАФ even loud noises can lead to an excruciating spasm, according to medical expert┬аRichard Nowak, a neurologist at Yale Medicine.
In a post┬аon the National Library of Medicine website, Texas neurologist Alexandra Muranova says┬аthe condition “has an insidious onset with gradual worsening over time and, if left untreated, can lead to permanent disability and mortality.”
Newsome said that on average, it can take about seven years to reach a diagnosis. He says there is some evidence that the syndrome is related to an imbalance of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter in the central nervous system.
GABA regulates the nervous system, so if its levels are low, he says that can create “spasticity” or hyper-excitability in the nervous system that looks like spasms, rigidness and tightness that leads to the disability.
Sufferers often not believed
Newsome stresses that the disorder is not fully understood, but is believed to have a relationship to T-cells тАФ a part of the immune system that attacks foreign particles.
“We are still learning,” said Newsome, who studies patients at his clinic to improve treatment.
He said that stiff-person syndrome affects predominantly older women. It was first described in the 1950s as stiff-man syndrome, despite the fact that the first case affected┬аa female.
Because it can take years to diagnose┬атАФ┬аas some hallmark traits do not immediately appear тАФ Newsome warned that many sufferers are not initially believed.┬а
Treatments
Sufferers are treated by specialists with an expertise in the brain and muscles, along with various experimental drugs.
According to the┬аNational Institute of Neurological Disorders and Stroke (NINDS),┬аpatients have responded to high doses of diazepam or anti-convulsants, gabapentin and tiagabine. Some researchers have tried immunoglobulin treatment in reducing stiffness and lowering sensitivity to noise, touch┬аand stress.
NINDS┬аresearches the syndrome in its laboratories at the National Institutes of Health (NIH), and says current research is focused on understanding the cause of the disease and the role of certain antibodies.
