Over a year ago, French Canadian singer Celine Dion disclosed on Instagram that she has stiff person syndrome (SPS), a rare neurological disorder characterized by muscle stiffness and painful spasms.
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However, Dion’s ongoing struggle with this debilitating condition didn’t prevent her from making an appearance at the 2024 Grammys on February 4. She presented the final award for album of the year, which Taylor Swift won for “Midnights.”
Expressing her gratitude, Dion remarked, “Thank you all, I love you right back. When I say, I’m happy to be here, I really mean it from my heart.”
Despite her health challenges, the 55-year-old pop icon also engaged in an impromptu duet backstage with R&B star Sonyae Elise, who shared a video of the moment on Instagram on February 6, captioning it as “Highlights of an ICONIC night.”
What is Stiff Person Syndrome
According to the National Institute of Neurological Disorders and Stroke (NINDS), stiff person syndrome (SPS) is an exceedingly rare progressive neurological disorder that affects the brain and spinal cord.
SPS is estimated to occur in approximately 1 in 1 million individuals, with women being affected twice as often as men.
Dr. Stacey Clardy, a neurologist specializing in autoimmune neurology at the University of Utah Health in Salt Lake City, noted, “It’s quite rare. During their career, many neurologists will not have seen more than one or two patients with a diagnosis of stiff-person syndrome.”
She further explained, “At the Autoimmune Neurology clinic at the University of Utah, we longitudinally care for over 50 patients with stiff-person syndrome,” emphasizing the rarity of the condition even within a large, dedicated national referral center.
Symptoms of Stiff Persons Syndrome
In a recent interview with 7 Jours, Celine’s sister Claudette Dion revealed that the singer now experiences a loss of muscle control due to the condition.
“There are some who have lost hope because it is a disease that is not widely known,” Claudette remarked in the interview.
According to the NINDS, symptoms of stiff person syndrome may encompass muscle stiffness in the torso, arms, and legs. Individuals with SPS may also exhibit heightened sensitivity to noise, touch, and emotional distress.
“Changes in temperature (extreme cold or heat) can trigger muscle spasms in some patients, as well as large crowds, emotional stress, and generally any setting where there is a lot of simultaneous sensory input,” stated Clardy.
Moreover, individuals with stiff person syndrome may eventually develop abnormal, hunched-over postures or become too incapacitated to walk or move, as per the NINDS.
Furthermore, falling is common as the condition can impair individuals’ ability to brace themselves, potentially resulting in severe injuries.
Those with stiff person syndrome may also avoid venturing out due to the risk of spasms triggered by loud noises or stress, leading to falls.
Typically, stiff person syndrome progresses slowly over time, with symptoms ranging from mild to severe in different individuals.
“As with any medical condition, the severity of symptoms falls along a spectrum — some people have very mild symptoms, others have quite severe symptoms,” Clardy explained. “But in general, for most SPS patients, symptoms slowly progress over time.”
Causes of Stiff Person Syndrome
The cause of stiff person syndrome remains unknown, although it is classified as an autoimmune disorder.
Stiff person syndrome is linked to prevalent systemic autoimmune conditions.
“It often manifests in individuals who possess a genetic predisposition to certain types of more common systemic autoimmune conditions, such as type 1 (insulin-dependent) diabetes, autoimmune thyroiditis, pernicious anemia, and Addison’s disease,” Clardy noted.
“It is exceedingly rare for stiff person syndrome to occur in individuals without some form of familial or personal history of systemic autoimmune conditions,” she stated.
“And even among those with a history of these more common autoimmune conditions, most will never have a family member diagnosed with stiff person syndrome,” she further elucidated.
How Diagnosis of Stiff Person Syndrome is Done
A blood test that assesses the levels of glutamic acid decarboxylase (GAD) antibodies can confirm the diagnosis of stiff person syndrome, as most individuals with SPS exhibit elevated levels of GAD antibodies.
However, obtaining an accurate diagnosis may require considerable time.
Due to the rarity of stiff person syndrome, individuals with this condition may consult multiple physicians before being referred to a neurologist specializing in the disorder.
Dr. Clardy remarked, “Given that muscle relaxants or pain medications are commonly prescribed for more prevalent causes of muscle spasms and cramps, individuals may have received appropriate treatment before the correct diagnosis is established.”
“This further complicates the diagnostic process because the medications may impede our ability to diagnose SPS,” she added.
Another obstacle in diagnosis is the intermittent nature of the symptoms.
“You may encounter an individual with stiff person syndrome during a clinical examination, and if they are in the early stages of the condition and experiencing a good day, they may appear essentially normal during the examination,” Dr. Clardy explained.
“However, once they leave the clinic, they may experience a severe, unprovoked muscle spasm,” she continued.
Furthermore, Dr. Clardy highlighted that prevailing systemic biases in medical practice, particularly regarding gender, could contribute to delays in diagnosing SPS, especially in women.
Treatment of Stiff Person Syndrome
Clardy outlined the treatment approach for stiff person syndrome, which involves addressing symptoms and targeting the immune system.
“Symptomatic treatments aim to alleviate muscle cramps and spasms. Typically, we prescribe a benzodiazepine such as diazepam (Valium),” she explained.
“The other aspect of our treatment strategy involves suppressing the immune system’s attack on the body. This is where IVIg (intravenous immune globulin therapy) comes into play. Additionally, we utilize other immunosuppressive medications off-label,” she added.
Dr. Marinos Dalakas, a specialist in neuromuscular medicine at Thomas Jefferson University in Philadelphia, led a clinical trial demonstrating that high-dose IVIg significantly improves stiffness, spasms, and gait over a three-month period in individuals with SPS.
The longer-term outcomes of this trial were recently published in Neurology Neuroimmunology & Neuroinflammation.
During a podcast of the American Academy of Neurology, Dalakas informed Clardy that his recent study indicated the long-term benefits of IVIg for patients with stiff person syndrome. The study had an average follow-up period of 3.3 years.
“We observed that 67% of the patients experienced improvement,” he reported. “This improvement was associated with enhanced gait, improved balance, reduced spasms and stiffness, diminished startle response, and enhanced ability to walk and participate in public activities.”
However, for approximately 30% of individuals who initially responded to IVIg, the benefits declined over time.
“This decline is linked to disease progression,” Dalakas explained, “underscoring the necessity for better and more effective therapies in the long term.”
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