What is stiff person syndrome? Celine Dion reveals rare diagnosis

• Celine Dion announced on Thursday that she has been diagnosed with stiff person syndrome.
• Stiff person syndrome is a very rare neurological condition that causes progressive muscle stiffness and painful spasms.

In a video about the future of her world tour released Thursday, Celine Dion revealed she has been diagnosed with stiff person syndrome.

The Canadian singer said the rare neurological disorder meant she had severe muscle spasms that affected her ability to walk and sing. The diagnosis means she has to postpone much of her tour and cancel some shows.

“The cramps affect every aspect of my daily life, sometimes causing difficulty walking and not allowing me to use my vocal cords to sing in the way I’m used to,” Dion said in the video posted to Instagram. “I have to admit it was a struggle. All I know is singing, I’ve done that my whole life.”

Dion said she needs to focus on her health now and is working with “a great team of doctors.” She said she hopes to perform again in the future.

Stiff person syndrome is a rare neurological disorder that affects one or two in a million people, according to Johns Hopkins Medicine. In particular, the disease causes progressive muscle stiffness and painful spasms. Treatment focuses on relieving symptoms.

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“It’s a disease characterized by progressive muscle stiffness, muscle spasms, and stiffness — typically in the muscles of the back, particularly the lower back, as well as the thighs,” said Dr. Kunal Desai, a neurologist and assistant professor of Yale Medicine neurologist who specializes in neuromuscular disorders, told USA TODAY.

“It can affect other muscles, including the muscles in your arms and the muscles that make you speak and swallow,” he said. “But that’s rarer.”

Here’s what you need to know.

What is stiff person syndrome?

Stiff-person syndrome, or SPS, is a rare “neurological disorder with features of an autoimmune disease,” states the National Institute of Neurological Disorders and Stroke.

The disease causes “progressive muscle stiffness and painful spasms” that can be triggered by environmental factors such as “sudden movement, cold, or unexpected loud noises,” Johns Hopkins Medicine said.

With extreme muscle spasms, “muscles can feel rock hard. So it can be very, very uncomfortable and painful,” Desai said, adding that other stimuli that can produce these spasms sometimes include touching the muscles, “certain subtle movements” and stress.

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What are the symptoms of SPS?

Prominent SPS symptoms include muscle stiffness and painful muscle spasms, which can be caused by emotional stress or, in turn, external stimuli. It’s possible that these spasms “are so severe that they cause the person to fall,” says Yale Medicine.

“We all have muscle spasms, but these are muscle spasms that are out of your control, to the point where the muscles lock up and are so stiff. There’s trunk dystonia,” Dr. Robert Wilson, a neurologist and director of the Autonomic Center at Cleveland Clinic, told USA TODAY, expanding on some severe cases he’s seen. “The limb can look distorted and twisted. I’ve seen people actually break a limb from it.”

These symptoms can cause difficulty walking, along with other disabilities. People with SPS are also more likely to experience anxiety and depression, Yale Medicine notes — noting how unpredictable the disease can be and because patients “have lower levels of the neurotransmitter GABA, which regulates anxiety.”

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NINDS adds that many people with SPS “are afraid to leave the house” because of environmental stimuli, such as loud noises, that can trigger episodes.

Are the symptoms the same for everyone?

Of course, SPS symptoms can vary significantly and each patient’s experience is unique. “It’s a spectrum of severity,” says Desai.

“Some people have mild cramps. Some people can have full dystonia, in which part of the body becomes rigid almost like a plank or like a statue. …And some people can be constant, with 24/7 lockdowns, or some people might just have episodes,” Wilson said. “There is variability in each patient.”

In rare cases, both Desai and Wilson note, stiff-person syndrome has also been linked to cancer.

How rare is SPS?

SPS is considered very rare because the disease is likely to affect one or two people per million, according to Johns Hopkins Medicine.

Desai adds that people diagnosed with stiff person syndrome are usually between the ages of 20 and 50, although the condition has also been identified in younger and older people. The disease is also “two to three times more common in women,” he said.

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How is SPS diagnosed?

Diagnosing the syndrome can be difficult, particularly because the disease is so rare, Desai and Wilson note.

A comprehensive review of a patient’s medical history, a neurological exam, and tests, including blood work, spinal fluid analysis, and an EMG, can be used to confirm the diagnosis.

Diagnosis is crucial, especially if a patient’s symptoms have been unexplained or misdiagnosed in the past, says Wilson.

“Validation is so important for a person with a neurological disorder because they can look good on some level and still suffer on the inside,” he said. “Once you feel the validation, we can help you.”

What causes the disease?

The exact cause remains unknown. However, research suggests that SPS results from “an autoimmune response gone awry in the brain and spinal cord,” writes NINDS.

Is SPS curable? is it terminal

There is no cure for SPS, states Yale Medicine. But there are treatments that help relieve symptoms — including various medications and immunotherapies prescribed by doctors, and various types of physical therapy.

SPS can be terminal in rare cases, Desai explained.

“First of all, it is a rare disease. And deaths are reported, but … it’s rare for a rare disease,” Desai said.

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Contributor: Elise Brisco, USA TODAY.