What IS stiff person syndrome as Céline Dion shares harrowing footage

Canadian singer Céline Dion has been hailed for bravely sharing harrowing footage of what it is like to live with stiff person syndrome (SPS).

In the terrifying clip, Dion, 56, is seen gasping for air, and wailing in pain unable to control her own body.

Medics are seen to desperately alleviate her agonizing spasms as a film crew silently documented the episode.

Dion was adamant that the entire scene be included in her new documentary I Am: Céline Dion on Amazon Prime, heartbreaking look at how the star is living with SPS.

Speaking directly in the aftermath she added: ‘Every time something like this happens, it makes me feel so embarrassed.

‘I don't know how to express it, you know, to not have control over yourself.’

Dion revealed her diagnosis with SPS in 2022 but had been secretly living with the condition for 17 years.

SPS is an autoimmune condition, meaning symptoms are caused by the immune system, which normally protects the body by attacking pathogens, mistakenly damaging healthy tissue.

For SPS sufferers this take form of blocking an enzyme that regulates the body's nervous systems, which governs our ability to control our movements and react to stimuli, from working correctly.

This can result in extreme muscle stiffness that severely impacts mobility and can turn sufferers into 'human statues', leaving them struggling to walk or talk.

As demonstrated by Dion in her documentary it can also lead to spasms as the nerve cells misfire with these having enough force to potentially fracture bone.

Other signs of the condition include heightened sensitivity to noise, sudden movements and emotional distress — as natural reactions misfire.

This can mean something as simple as a knock on the door can lock a patient inside their own body.

Here MailOnline explains everything we know about the extremely rare condition:

What is stiff person syndrome?

Stiff person syndrome (SPS) is an extremely rare disorder that makes the muscles in the torso and limbs alternate between spasming and being rigid.

It has been dubbed the 'human statue disease'. The spasms it causes can be so severe they dislocate joints and break bones.

Estimates suggest it affects around 70 people in the UK and just 330 in the US. Around twice as many women as men are hit with it.

It thought to be so rare it only strikes one or two people out of every million.

SPS typically develops among people aged 40-to-50 but also rarely strikes younger or older people as well.

Women are also, on the whole, more likely to develop SPS.

The disease becomes more severe over time and can cripple patients, requiring them to use a walker or wheelchair.

Céline Dion first revealed that she was suffering with the one-in-a-million condition stiff person syndrome in December 2022. Pictured the singer back in 2016 during a performance in Paris

There are three main types of the syndrome:

• Classical stiff person syndrome: When rigidity and spasms are around the back and stomach, and occasionally thighs and neck. It can cause back curvature over time.
• Stiff limb syndrome: Spasms especially affect the legs and feet, occasionally causing them to become fixed in place. Hands can also be affected.
• Jerking stiff person syndrome: The rarest, most aggressive form, which includes symptoms from both the others, and also affects the head and eyes.

What causes it?

Experts don't yet know what causes the disease.

But they believe it may be caused by an autoimmune reaction when the body attacks its own nerve cells that control muscle movement.

Around 40 percent of sufferers also have type 1 diabetes, another autoimmune disease. Type 1 diabetes is particularly associated with classical person syndrome.

Other autoimmune conditions like vitiligo, which causes white patches of skin, and pernicious anaemia, a deficiency in red blood cells, are likewise associated with it.

The condition is also more common in people with breast, lung, kidney, thyroid or colon cancer, as well as lymphomas, but researchers don't yet know why.

In stiff person syndrome, the immune system attacks a protein that helps make gamma-aminobutyric acid (GABA), which regulates motor neurons — the nerves that control movement.

Low levels of GABA cause the neurons to continuously fire when they are not supposed to, resulting in spasms and rigidity.

What are its symptoms? 

The main symptoms of stiff person syndrome are spasms and rigidity of the torso and limbs.

Spasms can be triggered by loud noises, with the condition also causing heightened sensitivity to sound.

Touch and emotional distress can also be felt more intensely as a result of the condition.

The spasms can be so severe they can cause people to fall over or lead to difficulty walking and other disability.

Stress and anxiety are also usually higher in those with the condition, particularly because of the unpredictability of spasms.

The lack of GABA — which regulates anxiety — in their system also affects mental health.

In a trailer for the movie, which will debut on June 25, Céline broke down in tears as she discussed the disease and the affects it has had on her

How is it diagnosed?

Because of its rarity and baffling symptoms, which are often mistaken for Parkinson's disease or multiple sclerosis (MS), diagnosing the syndrome can take a long time.

But if doctors suspect stiff person syndrome, they can confirm it with two tests.

The first looks for antibodies to the previously mentioned protein, called glutamic acid decarboxylase (GAD), in the blood.

High levels of GAD antibodies indicate stiff person syndrome may be occurring, although levels are also elevated in people with type 1 diabetes.

The second test is an electromyogram (EMG), which assesses the health of muscles and motor neurons.

Doctors insert a needle directly into affected muscles and record electric activity in them.

Is there a cure?

No. However, treatments can be given to help control symptoms.

Drugs including diazepam and baclofen —which both control spasms — can help regulate episodes and reduce stiffness.

Some patients with more severe symptoms are also given therapies to manipulate their immune systems, to increase GABA levels.

Immunoglobin transfusions can be given to affect antibody levels in the blood in some cases.

Medications such as sedatives and steroids may also be prescribed, again to alleviate the symptoms.

Meanwhile, patients are often prescribed physical and aqua therapy to improve how well their muscles work.

Can it be fatal?

Yes, but this is not usually directly caused by the condition itself.

Instead, fatalities from SPS usually occur from injuries, or subsequent infections, suffered from the spasms.

Blood clots from people being rendered immobile from the condition, have also been reported.

In extreme cases SPS spasms in the chest muscles can also dangerously inhibit a person's ability to breathe.

Read more