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What you need to know about Celine Dion’s rare disease

Celine Dion’s diagnosis with stiff-person syndrome has brought public attention to the rare neurological disorder, which affects an estimated one or two in a million people.

Dion announced Thursday that she has postponed her European tour dates for next year due to her condition.

“While we are still learning about this rare condition, we now know that this is what caused all the spasms I have had. Unfortunately, these spasms affect all aspects of my daily life, sometimes causing difficulties when walking and not allowing myself to use my vocal chords to sing like I used to,” the singer said in an Instagram video.

People with stiff-person syndrome often experience stiffness in the torso and limbs, as well as severe muscle spasms that can cause them to fall. Spasms can occur randomly or be triggered by certain stimuli, including loud noises, touch, and emotional distress.

Dr Richard Nowak, assistant professor of neurology at the Yale School of Medicine, said the disease “has a range of severity, from quite mild – easily managed with a bit of medication – to quite severe people who can be , frankly , quite handicapped by it.”

Stiff-person syndrome basically disrupts normal communication pathways between the brain and muscles.

“There’s a massive firing that happens from the central nervous system, through the spinal cord, through the nerves as they branch into the muscles, and that causes them to go rigid or go into spasms, which is equivalent to stiffness,” Nowak said. .

In most, but not all, people with stiff-person syndrome have high levels of antibodies that target a particular protein involved in the process of controlling muscle function. Doctors consider these patients to have an autoimmune disease.

“In stiff people, the pathways that are attacked are the braking pathways, so you’ve lost your brakes on your muscles,” said Harvard Medical School rheumatologist Dr. Simon Helfgott. “Once your muscle starts contracting, it has no way to stop itself from contracting.”

Helfgott estimated that about two-thirds of stiff patients have these antibodies, which can be detected by a blood test. But about 30% don’t, he said, so researchers don’t fully understand what’s driving their illness.

A small minority of cancer patients can also produce antibodies that attack the nervous system and trigger stiff-person syndrome, Helfgott added.

Symptoms of the syndrome go beyond the normal muscle cramps that most people experience from time to time, Helfgott said; instead, the muscles tend to lock up. Some of his patients had difficulty walking or required wheelchairs, he added.

“It’s just such a serious diagnosis to have, especially if you’re an artist [on] the kind of world-class stage,” Helfgott said. “It’s going to be very, very difficult to be able to keep going.”

Because many symptoms of stiff-person syndrome overlap with those of Parkinson’s disease, multiple sclerosis, fibromyalgia, or anxiety, diagnosis often takes time. Doctors rely on several tools to do this, including MRIs of the brain or spinal cord, blood tests, or electromyography tests that use tiny needles to measure a person’s muscle and nerve responses.

Helfgott said the syndrome is more difficult to treat than other autoimmune disorders like rheumatoid arthritis or Crohn’s disease, and there is no cure.

Muscle relaxants or Botox injections can help relieve milder symptoms like spasms, Nowak said. Patients with more severe symptoms are often prescribed intravenous immunoglobulin, an infusion that has been shown to reduce stiffness and sensitivity to noise, touch and stress.

But symptoms and their level of severity can vary from minute to minute, Helfgott said, and it’s hard to predict whether a patient’s condition will worsen over time.

“In some cases the condition can stabilize and stay the way it is. I have people who are like that – they’re no different now than they were 10 years ago,” he said. he declares. “In others, it’s a slow, subtle decline.”

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