Rare Stiff-Person Syndrome can be missed due to overlooked symptom

Canadian singer Céline Dion, famous for smash hits like 'My Heart Will Go On' and 'The Power of Love', has just announced her comeback years after being diagnosed with Stiff-Person Syndrome (SDS).

The 58-year-old 'Queen of Power Ballads' confirmed the exciting news on Instagram yesterday (30 March), sharing with her beloved fans that she will be performing a series of shows in Paris later this year in September.

"I'm so ready to do this," Dion said in the video. "I'm feeling good, I'm strong, I'm feeling excited, obviously, [and] of course, a little nervous."

"I'm doing great, managing my health, feeling good. I'm singing again, even doing a little bit of dancing," she assured fans.

Monday's announcement comes four years after the singer received her SPS diagnosis.

Dr Tony Banerjee, GP, Founder of HarleyDoc and Global CMO of NADclinic, has since exclusively told Tyla what you need to know about the incurable condition.

Céline Dion, who has just announced a comeback tour this September, was diagnosed with Stiff-Person Syndrome in 2022 (MEGA / Contributor / Getty Images)

SPS is a rare neurological condition characterised by progressive muscle stiffness and painful spasms (Getty Stock Images)

What is Stiff-Person syndrome?

Dr Banerjee explains that Stiff-Person Syndrome (SPS) is a rare neurological condition characterised by progressive muscle stiffness and painful spasms.

"It sits at the intersection of neurology and immunology, and is generally considered an autoimmune disorder, where the body mistakenly attacks parts of the nervous system," he outlines.

Most commonly, it affects the muscles of the trunk and abdomen initially, but over time, it can involve the limbs and significantly impair mobility and function.

A key symptom of SPS is increasing difficulty with movement, walking or maintaining balance (Getty Stock Images)

What are the symptoms of Stiff-Person Syndrome?

Early symptoms can be quite subtle and are often overlooked or misattributed, with a key one being gradual muscle stiffness, particularly in the lower back or abdomen

Typically, Dr Banerjee says patients may also notice:

• Painful muscle spasms, which can be triggered by noise, touch, or emotional stress

• An exaggerated startle response

• Increasing difficulty with movement, walking, or maintaining balance

"As the condition progresses, patients can develop a very characteristic, rigid posture and may become increasingly prone to falls," he adds.

Gradual muscle stiffness is another key symptom (Getty Stock Images)

How do you get Stiff-Person Syndrome?

The expert tells Tyla that the exact cause isn’t fully understood, but SPS is widely accepted to be an autoimmune condition.

Dr Banerjee says: "In many cases, patients have antibodies against an enzyme called glutamic acid decarboxylase (GAD), which plays a key role in producing GABA, an inhibitory neurotransmitter.

"When this pathway is disrupted, the nervous system becomes overactive, leading to stiffness and spasms."

The doctor adds that the disorder can occur in isolation but is sometimes associated with other autoimmune conditions, such as type 1 diabetes or thyroid disease.

SPS is widely accepted to be an autoimmune condition (Getty Stock Images)

Is there any cure for Stiff-Person Syndrome?

At present, there is no definitive cure for SPS.

However, there are treatments that can significantly improve symptoms and quality of life. These include:

• Muscle relaxants such as benzodiazepines

• Immunotherapies (e.g. intravenous immunoglobulin, steroids)

• In some cases, more advanced immunosuppressive treatments

Dr Banerjee notes that management is typically 'specialist-led', often involving neurologists with an interest in autoimmune disease.

There is no definitive cure for SPS (Getty Stock Images)

Can Stiff-Person Syndrome be mistaken for another condition?

The short answer is yes, according to Dr Banerjee, which makes it one of the 'key clinical challenges'.

He outlines that early SPS is frequently misdiagnosed as:

• Multiple Sclerosis

• Parkinson’s Disease

• Chronic pain syndromes or mechanical back pain

• Functional Neurological Disorder

Because it is so rare and symptoms are non-specific early on, diagnosis is often delayed.

SPS can often be mistaken for another condition (Getty Stock Images)

How rare is Stiff-Person Syndrome?

Dr Banerjee tells Tyla that SPS is extremely rare, affecting approximately one in a million people.

"To put that into context, most GPs will never encounter a confirmed case in their entire career," he says. "Even within neurology, it is considered an uncommon diagnosis."

He resolved: "Stiff-Person Syndrome is a powerful reminder that not all chronic pain or stiffness is mechanical or benign.

"When symptoms are progressive, atypical, or don’t respond to standard treatment, it’s important to step back and reconsider the diagnosis.

"Early specialist input can make a meaningful difference in outcomes for these patients."