Singer Celine Dion has stiff person syndrome. What is it?
It’s a rare condition more common in women than men. How does it affect the body and what are the treatments?
Singer Celine Dion has told fans she has a rare neurological condition that affects movement, causing her to have spasms that make walking and singing difficult.
The condition is called stiff person syndrome, and affects around one or two people in every million.
“The spasms affect every aspect of my daily life,” Dion said in an emotional Instagram video, announcing she would cancel and postpone her European tour. “I am working hard with my sports medicine therapist every day to build back my strength and my ability to perform again,” Dion said. “But I have to admit it has been a struggle.”
Experts say while stiff person syndrome can’t be cured, treatments can improve patients’ capacity to move. So, what is stiff person syndrome? How does it affect the body? And what can be done to treat it?
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What’s stiff person syndrome?
The condition was first identified in 1924 as researchers observed a handful of patients who appeared “board like” and who would fall like a “wooden man” or a “wax dummy”.
It’s a rare and incurable condition that affects the nervous system. It’s not fatal but affects quality of life and mobility. People who have it usually experience a slow onset of stiffness in their torso and limbs, and spasms that can be debilitating.
“Patients present with a feeling of stiffness, particularly when walking, of the trunk and arms and legs,” says neurologist Todd Hardy, an associate professor at the University of Sydney. “They can often be said to walk like a tin man, or a robot, because of that stiffness. And then on top of that, they can experience painful cramps as well.”
Hardy says some people have no pain, and cramps are not as prominent, but a portion of patients have “very severe, painful cramps”.
“It’s like chronic fatigue, you have no energy. It feels like you’re drained of every cell in your body.”
Early on, the stiffness can affect one or a few parts of their body – potentially causing the patient to limp – and can progress widely through the body, causing people to fall, walk with a hunch or lose their ability to walk.
Despite first being called “stiff man syndrome”, the condition is more common in adult women than men.
Shane James, from Tasmania’s north-west coast, was diagnosed with the condition in 2007, and says he has had full-body spasms in the past, but these days mostly feels as if his body “shuts down” on bad days.
“It’s like chronic fatigue, you have no energy. It feels like you’re drained of every cell in your body,” says James, who took on a 1000-kilometre trek to raise awareness for the condition in 2020.
What causes it?
Scientists are yet to fully understand what causes stiff person syndrome but believe it is an autoimmune condition, meaning the body’s immune system attacks healthy cells in the nervous system. It can show up spontaneously or in the context of another condition such as a cancer. Hardy says its antibodies appeared in two forms – one called glutamic acid decarboxylase, most likely to be associated with type 1 diabetes, and another called amphiphysin, which was more likely to be associated with cancers. “The GAD antibody one would be more common,” he says.
“It causes the muscles to go stiff because the muscles are always under an increased tension.”
Researchers cannot say exactly why it affects more women than men, but point to autoimmune conditions being more common among females.
The condition stems from problems in the spinal cord and brain, says Brisbane neurologist Stefan Blum, who practises at Princess Alexandra Hospital. “Essentially, what you’re faced with is an over-activation of certain brain cells, which then fire off and activate muscles without the person actually wanting them to get activated,” Blum says. “It causes the muscles to go stiff because the muscles are always under an increased tension.”
Loud noises, cold temperatures and sudden movement can cause the spasms, according to the Stiff Person Syndrome Center at Johns Hopkins Medical in the US.
How stiff person syndrome treated?
“Treatments are effective in controlling the autoimmune response and controlling the symptoms, but it doesn’t eliminate the underlying problem,” Blum says.
The basic treatment, usually by a neurologist, involves decreasing the body’s immune response by getting rid of antibodies with medications. Treatments can include intravenous immune globulins and steroids. Doctors usually also prescribe muscle relaxants.
“People can improve from therapy, it depends on the version of it,” Blum says. “[Some] people have seen a substantial improvement. There’s a few other versions of it where people have improved less well from the therapy.”
Hardy says immunosuppression methods are not always effective. “We often try it, but it doesn’t seem to be very responsive,” he says.
A team of health professionals typically work to improve a patient’s quality of life, also using podiatry and physiotherapy.
“Some people just need a walking aid or some adjustments to their gait with physiotherapy if they just have a very isolated version of stiff persons – in just one leg, for example – that’s easier to overcome,” Blum says.
Why is it hard to diagnose?
Health professionals can find the condition difficult to diagnose early on, when symptoms are less severe, because the condition is extremely rare and could be other more common diseases, Hardy says.
The disease takes on average seven years to diagnose, according to the Stiff Person Syndrome Research Foundation, and appears similar to the more common chronic condition multiple sclerosis.
“It is quite common for people to have a bit of stiffness in the body because of arthritis or other things.”
“First somebody has to think of it,” says Hardy. “It is quite common for people to have a bit of stiffness in the body because of arthritis or other things.”
He says increased awareness could help the disease be identified sooner.
Shane James has run dozens of marathons and finds the activity is a way to move the pain around his body. He also believes more could be done to co-ordinate the healthcare system for people with the condition.
“It’s shocking that [Dion] has got it,” he says. “[But] I always said it would take someone famous to get this condition before something is really done about it.”
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