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Bringing Stiff Person Syndrome to the Forefront
May 18, 2023
Sometimes all it takes to raise awareness of a rare disease is for a famous person to announce they have it.
That was the case for Stiff Person Syndrome (SPS), a relatively unknown neurological condition until global recording star Celine Dion cancelled concerts in 2022 to deal with its symptoms.
“The literature estimates that this affects 1-2 Americans per million, but we believe that’s underreported,” says Duarte Machado, MD, a specialist with the Chase Family Movement Disorders Center, part of the Hartford HealthCare Ayer Neuroscience Institute. “It’s a very rare condition that can take years to diagnose.”
Rare condition
SPS is a progressive disorder that causes stiff muscles in the torso, arms and legs, and triggers include sensitivity to noise, touch and stress. More women than men develop the condition.
“People with SPS often have trouble walking and they might fall because they lack the reflexes to stop themselves,” Dr. Machado says. “Sometimes, loud noises or stress trigger muscle spasms that are debilitating.”
The cause isn’t entirely understood, although research links it to an incorrect autoimmune response producing antibodies that result in muscle spasms. SPS is considered a spectrum disorder affecting a wide range of function based on the type of antibodies produced in each patient.
That information helps neurologists treat SPS, too, he continues. The most effective treatment is intravenous immunoglobulin therapy that attaches to the disease-causing antibodies so that the immune-mediated response is shut down. Other treatments, such as muscle relaxants, address SPS symptoms.
Next level
Dr. Machado is part of national efforts to expand awareness of SPS and research into more effective ways to diagnose and treat it.
“We want to take things to the next level and understand why the body makes these antibodies,” he explains.
He joined the medical advisory board of the national Stiff Person Syndrome Research Foundation, a group focused on collecting cases in a registry to power research into therapeutic treatments.
In addition, he recently convened the 6th annual SPS conference in Cheshire, gathering patients to learn from experts and each other about living with the condition. The first conference drew about 25 patients, but with Zoom, this year’s event drew 60 in person and 225 virtually from around the world.
“This is the largest global SPS patient conference ever, and it’s right here at Hartford Healthcare,” Dr. Machado says. “We want to provide more than just touchpoints in the clinic, but also a forum for patients to get to know others with the disease to help decrease their sense of isolation.
“Even if SPS affects only a few people, they need a voice and a place where they’re being heard.”