Earlier this month, singer Celine Dion posted on Instagram that she has rigorous syndrome.
“I found this to be the cause of all the cramps I was having,” she said.
She went on to say that it affects every aspect of her daily life. That includes walking and the ability to sing and control the vocal cords in a familiar way. She had to postpone her tour.
Dr. Ethan Meltzer, a neuroimmunologist and assistant professor of neurology at the University of Texas Dell School of Medicine, treats people with stiff person syndrome.
“It’s very rare,” he said. “We estimate there are probably a few (cases) per million people. For all of Austin, that’s a handful,” he said.
“We think it’s an autoimmune disease,” he said. It causes stiffness in the muscles of the back, abdomen, legs and arms. Persistent seizures often accompany it. It hurts so much.
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“Thankfully, the muscle it tends to engage is not the heart, nor usually the diaphragm.
“This is a chronic disease with no known cure,” he said.
It can be debilitating and can also lead to a lot of anxiety.
What Causes Stiff Person Syndrome?
“We don’t know what’s causing it,” Metzler said. It is slightly related to type 1 diabetes in that 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, including children. Most people are between she is 30 and he is 60. It affects women more than men.
It doesn’t come out of the blue. It usually develops over weeks or months.
It’s a difficult syndrome to diagnose because it’s so rare and often misdiagnosed, he said. Back and leg stiffness and cramps can be symptoms of many other conditions.
“Diagnosis is often delayed,” says Metzler.
By the time he sees someone, they are often under multiple doctors and they are not getting better, he said.
“Diagnosis is difficult. It’s based on history,” Metzler said.
There are some antibody blood markers that are common in people with stiff person syndrome, but not having these markers doesn’t mean you have the syndrome, and some people have the markers who don’t have the syndrome. There is a possibility.
Your doctor can also do an EMG (electromyography) to see how your muscles are being activated. Spinal fluid can also be tested for antibodies.
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How is stiff person syndrome treated?
Once someone is diagnosed, they will need lifelong treatment to manage their symptoms. “Early treatment is better,” Metzler said. “We tend to be pretty aggressive in how we manage it.”
Doctors are trying to avoid permanently debilitating the disease to their patients.
Muscle relaxants are often the first step. Doctors can then try an immunosuppressive biologic called rituximab, an intravenous infusion approved for diseases such as rheumatoid arthritis, non-Hodgkin’s lymphoma, and chronic lymphocytic leukemia. You can also try an intravenous injection of immune globulin. This has been successful in other autoimmune diseases.
All drugs are given for “off label use,” Metzler said. “The challenge with this disorder and other rare diseases is that there are no FDA-approved drugs. It has not been studied in a large clinical trial (only people with stiff person syndrome) because there are no people.”
Metzler says it can sometimes be difficult to get insurance to approve these treatments, but after numerous phone calls, approval can usually be obtained at his office.
Metzeler also recommends physical and occupational therapy. You may need amenities such as a wheelchair, or you may need your home to be accessible.
“The goal is for individuals with this disorder to lead normal lives,” he said. “That’s a reasonable goal.”
