Céline Dion Diagnosed With Stiff Person Syndrome: What It Is, Causes, Symptoms, Treatments

 Key takeaways:

• Stiff Person Syndrome (SPS) is a rare and progressive neurological disorder that causes muscle stiffness and spasms, significantly impacting daily life.
• Diagnosis for stiff person syndrome involves various tests, including blood tests, electromyography, and MRI.
• Treatment should be patient-specific, including medications, physical therapy, and lifestyle changes, but no cure exists.

Céline Dion’s recent documentary, which was released in June 2024 titled: “I am: Celine Dion”, debuted on Prime Video and highlighted the fact that she had Stiff Person Syndrome (SPS).

The world-renowned Canadian singer had earlier revealed in December 2022 that she had been diagnosed with a rare neurological disorder: Stiff Person Syndrome. Many were shocked by this revelation and were deeply moved to tears.

Stiff person syndrome is so rare that it occurs in about 1-2 persons per one million, with women more affected, twice as much as men, race notwithstanding. Researchers have found that symptoms in most patients begin between the ages of 20 and 60, with most people diagnosed in their 30s and 40s.

 What is Stiff Person Syndrome?

Stiff person syndrome (SPS) is a rare and progressive neurological condition marked by muscle stiffness in the torso, arms, and legs and heightened sensitivity to sounds, touch, and emotional stress, which can cause painful muscle spasms.

The muscular stiffness associated with stiff person syndrome sometimes becomes worse and other times, it improves. The condition begins subtly and progressively worsens over time, potentially leading to permanent disability and even death if not treated.

 Symptoms of Stiff Person Syndrome

SPS is a progressive disorder, and so, symptoms typically emerge gradually over months or years and can either remain stable for many years or progressively worsen. For some individuals, symptoms can be managed or improved with both medical and non-medical treatments.

Symptoms of stiff person syndrome include:

• Aching discomfort, and stiffness which initially occur in the lower back, hips, and legs.
• Progressive muscle stiffness, spreading to shoulders, arms, neck, and sometimes the face.
• Asymmetrical stiffness, which is often more pronounced on one side, leading to a slow, stiff walking manner.
• Hyperlordosis (increased inward curving of the lower spine, causing an arched back).
• Painful and severe muscle spasms, triggered by stimuli like noise, touch, cold, and stress. It can also involve the chest and respiratory muscles, rarely requiring emergency treatment.
• Difficulty walking, frequent falls, potential need for mobility aids (canes, walkers, wheelchairs).
• Agoraphobia (anxiety about crossing open areas, reluctance to go outside).

 Causes of Stiff Person Syndrome

Stiff Person Syndrome is a complex condition as researchers have not fully understood its exact cause. However, some believe it might be an autoimmune disorder. Autoimmune disorders happen when the body’s immune system mistakenly attacks healthy tissues.                 

Glutamic acid decarboxylase (GAD) is a protein in nerve cells that helps make gamma-aminobutyric acid (GABA). GABA is important because it controls muscle movements and calms the nervous system. Research has shown that Stiff Person Syndrome (SPS) is often linked to high levels of antibodies that attack GAD. This attack reduces GABA levels, leading to muscle stiffness and spasms.

SPS symptoms may emerge when the immune system targets neurons producing GAD, resulting in a GABA deficiency. However, the precise role of this deficiency in SPS remains unclear.

Some other antibodies have been linked to SPS, such as amphiphysin antibodies (often associated with breast cancer). In contrast, some antibodies have been unidentified, and some people with SPS have no antibodies.

It is worthy of note that Stiff Person Syndrome (SPS) can be linked to certain cancers, especially breast and lung cancer. This connection, known as paraneoplastic SPS, suggests that symptoms may appear before or alongside a cancer diagnosis. 

Regular cancer screenings are essential for individuals with SPS, as early detection can improve treatment outcomes.

 Risk factors for Stiff Person Syndrome

The following may increase a person's risk of developing stiff person syndrome:

• Autoimmune diseases: Individuals with other autoimmune conditions like diabetes, thyroiditis, pernicious anemia, or vitiligo are at higher risk.
• Genetics: A family history of autoimmune disorders may increase an individual's susceptibility to stiff person syndrome.
• Gender: SPS is more common in women than men because women are affected twice as much as men.
• Age: It typically appears in adulthood, most commonly between the ages of 30 and 60.

 Things that can trigger Stiff Person Syndrome flares

For people already diagnosed with SPS, certain things can trigger a flare-up of their symptoms, such as:

• Stress, both emotional and physical
• Sudden and abrupt movements, which can trigger muscle spasms
• Noises, including loud, sudden noises and street noises such as the sound of a car horn
• Environmental changes, such as changes in temperature (cold weather conditions)

 How healthcare professionals diagnose Stiff Person Syndrome

Sometimes, healthcare professionals mistake SPS for conditions like multiple sclerosis, Parkinson’s disease, psychosomatic illness, fibromyalgia, anxiety, and phobia.

But an accurate diagnosis of stiff person syndrome can be confirmed through the following:

• Blood tests: This is done to detect antibodies such as glutamic acid decarboxylase (GAD), amphiphysin, and glycine receptors that may be present.
• Magnetic Resonance Imaging (MRI): MRI is a non-invasive imaging technology that produces three-dimensional, detailed anatomical images. Simply put, it is a medical test that uses powerful magnets and radio waves to create detailed pictures of the inside of your body without any surgery. MRIs and other imaging tests like CT scans are usually done to rule out other conditions with similar symptoms, such as spinal stenosis and demyelinating disorders.
• Electromyography (EMG): EMG measures electrical activity in muscles to assess spasms and stiffness, both at rest and during muscle contraction. It is beneficial for individuals who experience musculoskeletal issues.
• Lumbar puncture: This procedure involves taking fluid from the spine in the lower back through a hollow needle for diagnostic purposes. It analyses cerebrospinal fluid for specific antibodies, particularly anti-glutamic acid decarboxylase (anti-GAD65) antibodies.

 Management and treatment

It is important to note that SPS is a complex disorder that affects people differently. Therefore, treatment should be patient-specific. SPS patients can be managed with one or more of the following therapies:

 Medical therapy

Medical treatments for stiff person syndrome can be divided into two: conventional medical therapy and immune-based therapy.

 Conventional medical therapy

This includes treatment using: 

• GABAergic agonists (drugs that behave like GABA): Benzodiazepines (diazepam, clonazepam) for muscle stiffness and spasms
• Muscle relaxants: Baclofen, tizanidine 
• Anticonvulsants (drugs that stop convulsion): Vigabatrin, pregabalin, gabapentin
• Others: Methocarbamol, botulinum toxin.

 Immune-based therapy

These are treatments that target the immune system and may include: 

• Intravenous immunoglobulin (IVIG) – usually the first-line therapy. IVIG can cause blood clots, kidney injury, and meningitis (inflammation of the coverings of the brain and spinal cord). Side effects include infusion reactions and headaches. Treatment plans should consider the risk-benefit ratio before using IVIG.
• Subcutaneous immunoglobulin (SCIG) – is given to individuals who cannot tolerate IVIG.
• Plasmapheresis (plasma exchange) - A procedure that removes antibodies from the blood, helping to reduce the immune attack on the nervous system.
• Azathioprine - An immunosuppressant that reduces the immune system's activity and is used to manage autoimmune conditions like SPS.

 Non-medical therapy

Other treatment options, including complementary and alternative medicine practices, that may help treat people with stiff person syndrome include:

• Stretching
• Heat therapy
• Aqua therapy
• Massage therapy
• Acupuncture
• Balance training
• Behavioral therapy

 Stiff person syndrome life expectancy and prognosis

The life expectancy of individuals with SPS varies based on the severity of symptoms and response to treatment. While SPS is a chronic condition, many people can manage their symptoms effectively with proper medical care and support. 

However, severe cases can lead to significant disability due to muscle stiffness and spasms, impacting quality of life and overall health. Generally, the life expectancy of people living with stiff person syndrome is normal, unless complications such as severe spasms or respiratory issues arise.

 Living with stiff person syndrome

Living with stiff person syndrome (SPS) requires comprehensive management and support. Patients often need to work closely with healthcare providers to develop a personalized treatment plan. Key strategies include:

• Physical therapy: Helps improve mobility and reduce stiffness.
• Occupational therapy: Assists in daily activities and enhances quality of life.
• Psychological support: Addresses emotional challenges associated with SPS.
• Support groups: Joining support groups and connecting with others who have SPS can provide emotional support and practical advice.