Photo: Kevin Winter/Getty Images for The Recording Academy
Two years ago, Céline Dion announced she had been diagnosed with stiff-person syndrome, a rare neurological disease that causes involuntary spasms and muscle rigidity. In an emotional video posted to her Instagram, Dion told fans the spasms impacted “every aspect” of her daily life, from walking to using her vocal cords. “I’m working hard with my sports-medicine therapist every day to build back my strength and my ability to perform, but I have to admit: It’s been a struggle. All I know is singing,” she said. Last December, Dion’s sister Claudette told a French magazine that the singer no longer had control of her muscles; a few months later, Dion made a surprise appearance presenting at the Grammys. In April, she told Vogue France, “I haven’t beat the disease, as it’s still within me and always will be … for now, I have to learn to live with it.”
Now, the new documentary I Am: Celine Dion, which premiered June 25 on Prime Video, offers viewers an intimate and painful look at what the singer’s life has been like since her diagnosis, with cameras rolling as Dion suffers from a lengthy seizure during a physical-therapy session. In an interview with the New York Times, director Irene Taylor says it was Dion’s decision to leave that raw footage in: “The first thing she said to me was, ‘I think this film can help me,’” Taylor recalled. “‘I think this film can help others understand what it’s like to be in my body … I don’t want you to shorten that scene.’”
But what exactly is stiff-person syndrome, and how can patients living with the disease expect their everyday lives to change? The Cut spoke with two experts — Dr. Scott Newsome, the director of the Stiff Person Syndrome Center at Johns Hopkins, and Dr. David Simpson, the director of the neuromuscular-diseases division at Mount Sinai — to learn more.
It’s an autoimmune neurological condition that is usually progressive and causes rigidity of muscles in the body, including the neck, the trunk, the legs, and the arms, often leading to difficulty walking and unexpected falls. The most common form of the disease involves the musculoskeletal system and causes spasms and stiffness in the torso and legs, while patients with partial stiff-person syndrome experience symptoms limited to one body part (though the disease may progress to other regions). Patients who have what experts call “stiff-person syndrome plus” also experience dysfunction in the brain stem or cerebellum, which impacts their motor control and balance and can cause double vision and speech issues.
Stiff-person syndrome is an exceedingly rare condition, though Newsome is wary of its reputation as a one-in-a-million disease. “Likely it’s more common than that,” he says. “A couple of recent studies have shed light on the prevalence being drastically different and yet still rare.”
While they vary from patient to patient, the main one is muscle stiffness — but patients can also experience spasms, muscle pain, excessive curvature of the lower spine, eye-movement abnormalities, and disturbances in heart rhythms and blood-pressure control.
Anxiety and agoraphobia are also common. “Anxiety seems to be part of the disease,” Newsome says. The syndrome impacts neurotransmitter pathways in the brain, which help to keep the nervous system balanced and calm. In a patient with the disease, those pathways don’t have the ability to settle down the nervous system, leading to hyperexcitability, muscle contractions, and heightened levels of anxiety. Stimuli like emotional stress, loud noises, and cold weather can all trigger the disease.
The disease is usually progressive, though not always: Newsome has some patients whose symptoms don’t get progressively worse. And while progression of the disease won’t look the same for everyone, Newsome says most patients can expect a negative impact on their mobility and quality of life, often leading them to retreat from social life. “Even just going out with friends to have lunch — many people end up not doing that because of their symptoms and their fear of falling over,” he says. When the disease does progress, patients will experience a worsening of those baseline symptoms and the disease creeping into more parts of the body. There isn’t robust data to suggest that stiff-person syndrome affects life expectancy. But secondary complications — like hip fractures after falls or blood clots from decreased mobility — definitely can.
Although anyone can get stiff-person syndrome, it most commonly shows up in middle age, in the 40s and 50s, says Newsome. And like other autoimmune conditions, it predominantly affects women. It’s unclear why: “More research needs to be done, not just for stiff-person syndrome but other conditions,” Newsome says. “Maybe that will give us more insight into how to treat it differently — or better than we are now.”
The underlying cause isn’t known. That said, Newsome notes that a large percentage of patients will develop coexisting autoimmune conditions, including thyroid disease, insulin-dependent diabetes, and pernicious anemia — which leads to vitamin-B12 deficiency — before or after receiving a stiff-person-syndrome diagnosis. Simpson says some patients may also have stiff-person syndrome associated with cancer — usually breast and lung cancer.
Patients may go undiagnosed for a long time simply because the disease is so rare. It’s common for patients to think they have back or neck problems. On top of that, symptoms mimic those of other disorders, like Isaacs syndrome, which also causes muscle stiffness; multiple sclerosis; ALS; and functional neurological disorder. Unlike some of those conditions, muscle weakness isn’t a typical symptom of stiff-person syndrome — and MRIs of the brain and spinal cord for people with stiff-person syndrome will appear normal, unlike those of people with MS. But still, differentiating stiff-person-syndrome symptoms from these other conditions can be tricky. “It’s a diagnosis of exclusion,” Newsome says. “If someone presents with symptoms of stiff-person syndrome, you have to rule out other things, with labs and imaging, to make sure it isn’t one of these other conditions. There’s really no end-all, be-all gold-standard test for symptoms or signs on an exam that separate these other disorders.”
Unfortunately not, though Newsome says an accurate and timely diagnosis can help ease a patient’s suffering and prevent future disability. Treatments involve immune-based therapies — such as oral immunosuppressants — which target the immune system and help suppress the cells and proteins attacking the nervous system. There are also treatments for day-to-day symptom management: muscle relaxers, anxiety medications, and interventions like aquatherapy, heat therapy, gait and balance training, and stretching.
“A question that comes up a lot is ‘Will these therapies reverse time and get me to where I was before having the initial symptoms?’” Newsome says. “I’m a believer in not providing false hope. Our current therapies, in my view, are not going to reverse time, but they can certainly improve quality of life, and we’ve seen them prevent secondary conditions,” he says. He adds that there’s emerging data suggesting that patients may be able to prevent symptoms from getting worse or spreading to other parts of the body by using immune therapy. But those positive outcomes aren’t guaranteed. “That’s why we need to continue doing research and develop better treatments that target the immune system more specifically,” Newsome says. “And, of course, find a cure.”
This post has been updated.