What is Celine Dion’s Stiff Person Syndrome?
Earlier this month, singer Celine Dion posted on Instagram that she has Stiff Person Syndrome.
“Now we know that this is what’s been causing all the spasms I’ve had,” he said.
She went on to say that it affects every aspect of her daily life, including when she walks and her ability to sing and control her vocal cords in the way she’s used to. She has had to postpone her tour.
Dr. Ethan Meltzer, a neuroimmunologist and assistant professor of neurology at the University of Texas Dell Medical School, treats people with stiff person syndrome.
“It’s extremely rare,” he said. He estimates there are “probably a few (cases) per million people. In all of Austin, it’s only a few,” she said.
“We think it’s an autoimmune disease,” he said. It causes stiffness in the muscles of the back or abdomen, legs, or arms. It is often accompanied by persistent spasms. It is very painful.
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“Fortunately, the muscles that it tends to involve are not the heart and usually not the diaphragm either,” he said.
“It’s a chronic disease with no known cure,” he said.
It can be debilitating and also cause a lot of anxiety.
What Causes Stiff Person Syndrome?
“We don’t know what triggers it,” Metzler said. There is a slight association with people with type 1 diabetes, as it is more common in people with type 1 diabetes.
It is the body’s immune system attacking itself.
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How is stiff person syndrome diagnosed?
People can be diagnosed at any age, even as children. Most people are between the ages of 30 and 60. It affects women more than men.
It does not appear suddenly. It is usually something that develops over several weeks or months.
It’s a difficult syndrome to diagnose because it’s so rare and often misdiagnosed, he said. Back or leg stiffness or spasms can be symptoms of many other conditions.
“There is often a delay in diagnosis,” says Metzler.
When he sees someone, he’s often been to multiple doctors, but he doesn’t get better, he said.
“The diagnosis is complicated. It’s based on history,” Metzler said.
There are some blood markers for antibodies that are commonly seen in people with stiff person syndrome, but they don’t have to have those markers to have the syndrome, and there may be people who have those markers who don’t have the syndrome.
Doctors may also perform an EMG (electromyography) to see how muscles are activated. They may also test cerebrospinal fluid to look for antibodies.
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How is stiff person syndrome treated?
Once someone is diagnosed, they require lifelong treatment to control symptoms. “Early treatment is best,” Metzler said. “We tend to be quite aggressive in the way we handle it.”
Doctors are trying to prevent a person from being permanently weakened by the disease.
Often muscle relaxants are the first step. Doctors can then try an immunosuppressant biologic called rituximab, which is an intravenous infusion that has been approved for diseases such as rheumatoid arthritis, non-Hodgkin lymphoma, and chronic lymphocytic leukemia. They may also try intravenous immune globulin infusions, which are successful in other autoimmune disorders.
All of the drugs are administered as “off-label use,” Metzler said, because there are no specific treatments for people with stiff person syndrome. “The challenge with this disorder and other rare diseases is that there is no FDA-approved drug. They have not been studied in a large trial (only of people with stiff person syndrome) because there are not enough people to participate in a large trial. .”
Sometimes it’s hard to get insurance to approve these treatments, Metzler said, but after several calls, his office can usually approve them.
Metzler also recommends physical therapy and occupational therapy. Sometimes people need to have equipment like a wheelchair and they need to make their homes more accessible.
“The goal is for people with this disorder to live a normal life,” he said. “That’s a reasonable goal.”