What Is Stiff Person Syndrome? Diagnosis, Symptoms And Treatment

Stiff person syndrome is a rare neurological condition that can take years to diagnose and tailor treatment.

Singer Celine Dion announced in an Instagram video on Thursday that she was canceling some performances because she was diagnosed with the condition. (What Is Stiff Person Syndrome? Diagnosis, Symptoms, And Treatment)

“While we are still learning about this rare condition, we now know that it is what is causing all the cramps I am having,” Dion said.

What is Stiff Person Syndrome?

Stiff person syndrome is characterized by muscle stiffness and spasms, increased sensitivity to stimuli such as sound and light, and can cause muscle spasms, according to the National Institute of Neurological Disorders and Stroke.

“It is often associated with muscle spasms, which can be quite severe. These can lead to falls, severe pain, and significant disability,” said Dr. Emile Sami Moukhaiber of the Stiff Person Syndrome Center at Johns Hopkins Medicine. “Falling due to severe cramps is very common. These cramps can be triggered by nervousness, severe emotions, and cold weather. (What Is Stiff Person Syndrome? Diagnosis, Symptoms, And Treatment)

These spasms can be strong enough to fracture a bone, and any fall can result in serious injury.

Dion said in her video that the spasms affect “every aspect” of her daily life, “sometimes causing difficulties when I move and not allowing me to use my vocal cords to sing.” As I used to do.”

The symptoms of the syndrome can also cause concern.

“Many patients, if not all, have anxiety that is intrinsic to the illness, and that anxiety is actually driven by the physical ailments of the illness,” said Dr. Scott Newsome, director of the Stiff Person Syndrome Center. A video on the organization’s website.

Who is affected by Stiff Person Syndrome?

The condition affects about one million people, and most general neurologists will only see one or two cases in their lifetime, Mokhiber said.

According to Newsom, the first case of the stiff-man syndrome was reported in the 1950s, and the condition was historically referred to as “stiff guy syndrome”.

Since then, it has been found to affect twice as many women as men, and the name was changed to Stiff Person Syndrome to avoid confusion.

What is the cause of Stiff Person Syndrome?

Stiff person syndrome is thought to have features of an autoimmune disease, according to the National Institute of Neurological Disorders and Stroke.

Although the exact cause is unclear, according to the institute, “people with SPS have elevated levels of GAD, an antibody that acts against an enzyme involved in the synthesis of an important neurotransmitter in the brain.”

Because of the rarity of the disease and the ambiguity of its symptoms, people often seek care for chronic pain before seeking neurological care. On average, it takes about seven years for someone to be diagnosed with stiff person syndrome, says Newsome. (What Is Stiff Person Syndrome? Diagnosis, Symptoms, And Treatment)

“Sometimes [patients] are labeled as insane,” he said, “because, on initial examination, there is no hallmark of stiff person syndrome.”

How is stiff person syndrome treated?

There is no known cure for stiff person syndrome, but medications can relieve symptoms. Immunoglobulin medications can help reduce sensitivity to light or sound triggers, which can help prevent falls or convulsions.

Analgesics, anxiolytics, and muscle relaxants can be part of the treatment for this disease. The Stiff Person Syndrome Center also uses botulinum toxin injections.

“If left untreated, the disease can seriously affect daily life,” Moukhaiber said.

But symptoms can be controlled with treatment.

Dion, who said she has struggled with her health for some time, said she has a great team of medical professionals and the support of her children.

“I am working hard every day with my sports medicine therapist to regain my strength and ability to perform again,” he said. “But I have to admit, it’s been a struggle.”

For a performer like Dion, loud noises and bright lights can trigger muscle spasms.

“This is a very challenging disease that can affect him if not treated aggressively, promptly and appropriately,” Moukhaiber said.