How Physiatry Can Help People with Stiff Person Syndrome (SPS)
When Celine Dion revealed in 2022 that she has stiff person syndrome (SPS), many had likely never heard of the rare neurological disorder, which affects only about 1 to 2 people per million.
But now, two years after the singer announced her diagnosis—and with the release of her documentary, I Am: Celine Dion, which chronicles her medical struggles, as well as her performance at the opening ceremonies of the Olympics—SPS is gaining attention.
“Hopefully, this will lead to more research into the condition, which has no cure,” says Jennifer Hankenson, MD, a Yale Medicine physical medicine and rehabilitation specialist (PM&R)—also known as a physiatrist, a medical doctor with extensive training in the nonsurgical treatment of musculoskeletal and neurological problems.
“The challenge with rare neurologic diseases is that they are often under-funded and under-researched. Stiff person syndrome hasn’t received much research attention because of its rarity,” Dr. Hankenson says. “Celine Dion has been amazingly open about her journey and the hope for better treatment. I think this will re-energize the research community, and, possibly, more funding dollars will become available to look for a cure.”
Stiff person syndrome is characterized by stiffening in the muscles of the torso, arms, and legs, along with episodes of violent muscle spasms (often referred to as “events”). The exact cause of SPS is unknown, but researchers believe it may involve an autoimmune reaction in which the immune system attacks a protein that helps make the substance gamma-aminobutyric acid (GABA). GABA regulates motor neurons by decreasing their activity. If there are low levels of GABA, as is true in people with SPS, neurons can end up firing continuously, leading to spasms and other symptoms.
“You need enough GABA to keep your muscles relaxed or in a normal state of rest. When the GABA levels are low, the muscles tend to be too highly stimulated, which can lead to a significant event, like a large muscle cramp that can result in a full-body spasm,” Dr. Hankenson says.
GABA also helps regulate anxiety. If GABA levels are low, patients aren’t equipped to handle loud noises, stress, or strong emotions, and exposure to any of these can trigger SPS symptoms.
Below, we talk more with Dr. Hankenson about the approach that physiatrists take in treating SPS.
How do patients with stiff person syndrome get referred to you?
Well, for background, physiatrists help people regain body functions lost due to medical conditions and injuries that affect the brain, spinal cord, and musculoskeletal system. Often, other specialists are focused on the immediate treatment of the disease, but we’re focused on functional recovery.
"I often ask my patients, 'What can we do to get you back to where you want to be?'” says Jennifer Hankenson, MD, a Yale Medicine physiatrist, a medical doctor with extensive training in the nonsurgical treatment of musculoskeletal and neurological problems.
Most of the patients I see have already been diagnosed, often by a neurologist. They could be referred to me from an outpatient setting or the hospital.
The nice thing about physiatry is that our specialty tends to work in multidisciplinary settings, which means we can complement different aspects of care, depending on an individual’s needs. With this diagnosis, for instance, we can assess a person’s functional movements and decide how to best address them. For example, would they benefit from physical therapy? Are there medication adjustments related to sedatives, muscle relaxants, and steroids that can be made to help them? Or can we recommend interventions, such as Botox® injections, which can help relax the muscles?
We also focus on the day-to-day challenges that can get missed when patients are working with their specialist to treat the acute, or immediate, symptoms.
We ask questions like, “What does your home setup look like?” “How many stairs do you have to enter your house?” “Are you having trouble getting in and out of your house?” “Are you having trouble with sitting and getting up from bed?”
With answers to those questions, we provide some tools to hopefully make life easier for the patient.
What do physical therapists need to know about working with patients who have stiff person syndrome?
I provide education to physical therapists we refer patients to because not every physical therapist has treated a patient with stiff person syndrome. One of the things that's so important is to create a calm and controlled environment. When SPS patients are startled or very excited or have a lot of stress or commotion in their environment, the body tends to deplete GABA as a stress response.
So, when you have a condition where that reserve is already low, GABA levels drop even more, and, as a result, the muscles stay tight—that's when they spasm. So, working in a lower-stress environment can often minimize the chances that it will trigger a spasm or a significant event.
To address this, those patients should not do their therapy in the standard open gym. They should be taken into a side or more private room to work on their exercises in a lower-stimulus environment.
Are any specific exercises or treatments typically recommended for patients with stiff person syndrome?
It varies, depending on the patient. For one patient, the focus may be on correcting how they walk or their foot positioning while walking. And a brace may be recommended to see if that helps. For another patient, they may be having trouble with writing or sewing or knitting. So, in that case, the focus may be on providing exercises or help with their upper extremities, which tend to be what cramps up.
And, as I mentioned, for other patients, Botox can be injected directly into a muscle to help it relax. This is what we would call an “off-label use” because stiff person syndrome is so rare that there are no studies supporting its use for tight muscles. But some patients may find relief. It can help keep certain muscle groups—ones that tend to spasm—more relaxed.
Should people be worried about stiff person syndrome if they experience muscle stiffness?
If you're having concerning symptoms, such as muscle spasms or tight muscles that aren’t relaxing naturally, talk to your doctor. Because SPS is a rare disease, it is likely not stiff person syndrome, but a workup could be useful. There are other neurologic conditions, such as Parkinson’s disease, that can mimic the symptoms of stiff person syndrome. So, if you're experiencing new muscle-related symptoms, tell your doctor to make sure something more significant isn't happening. But, in the end, most patients with muscle spasms don't have stiff person syndrome.
What do you like about working with patients with stiff person syndrome?
In general, my specialty focuses on functional recovery and functional improvement. So particularly with patients with stiff person syndrome, they're often coming to see me either after they've had a significant episode where they were unable to control their muscle spasms or they're relatively newly diagnosed and have gone from being able to do all the things they want to do to being more limited.
I love to listen to patients, to see what their goals are, and offer all that we can to get them back to where they want to be, whether it's working closely with physical therapy, looking at different medication treatment options, or getting them connected with the right specialists.
One of the things I love so much about Celine Dion's documentary is that she continues to pursue her goal of returning to the stage and performing for her fans. And that's how I frame my conversations with patients. I will ask, “What can we do to get you back to where you want to be?”
