- Céline Dion is speaking out about stiff person syndrome (SPS), a diagnosis she first revealed nearly two years ago.
- SPS is a rare autoimmune neurological disease that affects muscles and coordination, resulting in muscle stiffening, painful spasms, and an increased risk of falling.
- There is no cure for SPS, but individuals can improve their quality of life through treatments including immunotherapy, benzodiazepines, and physical therapy.
Almost two years ago, Canadian music icon Céline Dion revealed a rare diagnosis known as stiff person syndrome and largely disappeared from public life; now she’s now discussing her diagnosis with NBC News.
She’s one of the top-selling musicians of all time, with more than 200 million albums sold, but Céline Dion, 56, rarely performs these days. Instead, she’s been fighting back against a rare autoimmune neurological disorder known as stiff person syndrome (SPS), which affects her ability to move and, yes, sing.
Speaking to NBC’s Hota Kotb on Tuesday, Dion revealed the uncomfortable truth about living with SPS.
“It’s like somebody is strangling you. It’s like somebody is pushing your larynx/pharynx,” she said in the interview.
As the name implies, Dion also deals with muscle stiffness that has impacted her quality of life and ability to do things that she loves.
“If I cook — because I love to cook — my fingers, my hands, will get in position. … It’s cramping, but it’s like in a position where you cannot unlock them,” she said.
She regularly deals with muscle spasms in her throat and abdominal area as well. One particular incident was so strong that Dion broke one of her ribs.
“Unfortunately, these spasms affect every aspect of my daily life…sometimes causing difficulties when I walk and not allowing me to use my vocal cords to sing the way I’m used to,” she told Kotb.
“All I know is singing,” she said. “It’s what I’ve done all my life. And it’s what I love to do the most.”
What is stiff person syndrome?
“SPS is an autoimmune neurological condition where the cause is not known at this time. What ends up happening is that the nervous system becomes hyper-excitable, which ultimately leads to the symptoms and signs that we see,” Scott Newsom, MD, a Professor of Neurology and Director of the Stiff Person Syndrome Center at Johns Hopkins Medicine, told Healthline.
Autoimmune diseases are conditions in which the immune system mistakenly damages healthy cells. Type 1 diabetes, lupus, and rheumatoid arthritis are among the cluster conditions considered autoimmune diseases.
In the case of SPS, the condition is also neurological, meaning that it affects parts of the nervous system.
SPS is believed to affect only one or two people out of one million. However, due to its rarity and the range of symptoms associated with it, experts believe it’s more common than current statistics indicate.
Diagnosis is also tricky, usually requiring a referral to a neurologist and blood tests for specific antibodies.
“It’s a tricky diagnosis because it does require evaluation by a neurologist. If there’s a suspicion, getting a patient to a neurologist quickly, first and foremost, is the most important part of the diagnosis,” Shailee Shah, MD, an Assistant Professor in Neuroimmunology at the Vanderbilt University Medical Center, told Healthline.
It most commonly develops during mid-life, between the ages of 30 and 50. Like other autoimmune diseases, SPS affects more women than men. Individuals with other autoimmune diseases are at increased risk of getting SPS.
SPS is progressive, and individuals may experience a wide range of symptoms. The most common of which are muscle stiffness or rigidity and painful spasms in the abdomen, back, and limbs. Mobility may also be affected, resulting in an irregular gait, stiff movement, and an increased risk of falling. Over time, spasms may also result in changes to posture, including lordosis and kyphosis.
Other resulting symptoms include increased emotional distress, anxiety, and depression.
“SPS is considered a spectrum disorder. From symptom onset to diagnosis can take several years, so people are not aware of the condition, and then we see this expanding spectrum of symptoms,” said Newsom.
As a progressive disease, SPS manifests as a spectrum, meaning there is a diverse range of symptoms and severity.
Variations of SPS include:
- Classic stiff person syndrome: symptoms include muscle stiffness, rigidity, and spasms
- Focal stiff person syndrome: similar to the classic syndrome but may be isolated to an arm or leg. Eventually the trunk of the body may become affected as well.
- SPS with cerebellar ataxia: an even rarer form of SPS that overlaps with cerebellar ataxia, resulting in more muscle control, double vision, and dizziness.
The biological mechanism of SPS
Although the true cause of SPS is still unknown, scientists have identified a link with an antibody known as GAD65, which can indicate the presence of an autoimmune disorder.
“There are certain proteins that are usually expressed in inhibitory neurons that are being targeted by this immune response. And there are auto-antibodies that we think are markers of disease. The one that’s most important is called GAD65, which is the antibody targeting glutamic acid decarboxylase. We think this is one of the most common causes of this disease,” said Shah.
Glutamate decarboxylase is an enzyme found in the brain that is an essential part of chemical signaling involving GABA. GABA is a neurotransmitter that helps to slow down your brain and plays a role in feelings like anxiety, stress, and fear associated with a hyperactive nervous system.
In SPS, the immune system attacks this critical pathway.
“Those GABA pathways become dysfunctional, and these pathways are there to keep the nervous system calm. So, when it’s not calm, anything that feeds into that hyper-excitable nervous system will trigger the symptoms or make them worse,” said Newsome.
Due to this “hyper-exciteable” state of the nervous system, emotional stress, abrupt loud noises, and other shocks can trigger muscle spasms.
Can you treat SPS?
There is no known cure for SPS, but a combination of therapies can improve symptoms and quality of life.
“What has been classically done for this disease is based on treatment of other autoimmune diseases systemically and neurologically, as well as symptom management,” said Shah.
Treatment is a multi-pronged approach that includes immunotherapies, such as intravenous immunoglobulin, that work directly on the immune system. Depending on the severity of symptoms, doctors may also prescribe benzodiazepines to help calm the central nervous system, muscle relaxers, and drugs that act on the GABA pathway, such as gabapentin.
Other interventions, specifically those working on the body, movement, and muscles, can also be helpful to alleviate pain and improve mobility, such as:
- Stretching
- Massage
- Yoga
- Acupuncture
- Physical therapy
- Qigong
“When you put all of this together, I’ve seen better outcomes over time. There’s no cure, so those outcomes could be just helping the person’s day-to-day quality of life. And with the immune therapies, we have seen that for the individual, it could help prevent progression and worsening over time,” said Newsom.
The bottom line
Céline Dion is speaking publicly with her diagnosis of stiff person syndrome (SPS), a rare autoimmune neurological disease.
SPS affects the body’s muscles, causing muscle stiffness, painful spasms, and worsening mobility.
There is no cure for SPS, but a multi-pronged treatment, including benzodiazepines, immunotherapies, and physical therapy, can improve quality of life and improve mobility.
Celine Dion Opens Up About Living with Stiff Person Syndrome
Source: Pinoy Lang Sakalam
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