What Is Stiff Person Syndrome? Doctor Explains the Rare Disorder, Symptoms and Treatment

In recent news, Céline Dion, the iconic singer known for her powerful voice and chart-topping hits, r evealed her diagnosis with Stiff Person Syndrome (SPS) . Dion's announcement sparked a wave of interest and concern from fans and the general public. But what is SPS? We spoke to a healthcare professional who explains everything you need to know about the often-debilitating condition, including the causes, symptoms and treatment options.

What is Stiff Person Syndrome?

Stiff Person Syndrome is a rare, progressive neurological disorder characterized by severe muscle stiffness and painful spasms. It was first identified in the 1950s and remains relatively unknown, thought to affect about one to two in a million people . It is often compared to other neurological or autoimmune disorders, such as Parkinson’s disease and multiple sclerosis, due to its rarity and the complexity of its symptoms.

The exact cause of SPS is not fully understood, but it is believed to be an autoimmune disorder. “In stiff-person syndrome, the immune system mistakenly targets its own proteins, some of which are important for muscle control,” says James Chung, MD, PhD , Chief Medical Officer at Kyverna Therapeutics. “One of our body’s enzymes which can be impacted is called glutamic acid decarboxylase (GAD). GAD normally promotes the production of a chemical called GABA, which helps muscles to relax.” Dr. Chung explains that this leads to a loss of control in muscle contraction and relaxation. “It's as if the body's 'off switch' for muscle contraction is malfunctioning, leaving muscles in a constant state of activation,” he adds.

Who does Stiff Person Syndrome affect?

Stiff Person Syndrome can affect individuals of any age. However, it most commonly develops during midlife, between the ages of 40 and 50 . According to the National Institute of Neurological Disorders and Health, it affects females twice as much as males. Additionally, the NINDS reports many misdiagnose SPS with other autoimmune diseases, such as type 1 diabetes, thyroiditis and vitiligo, indicating a potential genetic or environmental link.

Related : Our Favorite Celine Dion Songs: Top 14 Hits, Ranked

What are the symptoms?

The symptoms of Stiff Person Syndrome can vary widely among individuals. “SPS may impact any muscle group in the body,” says Dr. Chung. “Patients with SPS often describe their pain as intense sharp pain that makes it hurt to move. Many report a constant underlying muscle tension as if their body is perpetually braced…It's important to note that pain experiences can vary widely among individuals, both in intensity and character.”

• Muscle stiffness: Persistent stiffness, primarily in the trunk and limbs. This stiffness can fluctuate but often worsens over time.
• Muscle spasms: Sudden, severe spasms can result from various stimuli, including loud noise, light touch and emotional distress. These spasms may last for minutes or hours.
• Affected posture: As the disease progresses, individuals may develop a hunched posture or other deformities due to chronic muscle contractions.
• Difficulty walking: The combination of stiffness and spasms can make walking difficult and increase the risk of falls.
• Sensitivity to stimuli: People with SPS often have heightened sensitivity to sensory stimuli, which can trigger or exacerbate symptoms.

Related: Pain In The Lower Back, Butt and Legs Isn’t Always Sciatica — Sometimes It’s A Muscle Spasm That Needs Very Different Treatment

Treatment options for Stiff Person Syndrome

While there is no cure for SPS, several treatment options can help manage the symptoms and improve quality of life. “Treatment for SPS currently is focused on treating the symptoms,” says Dr. Chung. He outlines the following options:

• Muscle relaxants: “Such as diazepam or baclofen are often prescribed to reduce muscle stiffness and spasms but can make patients drowsy.”
• Immunotherapy: “ Reduces the amount of attacking antibody, including medicines like intravenous immunoglobulin or plasmapheresis, but their impact is variable and often transient.”
• Pain medications: “Crucial and may involve both non-opioid and opioid medications, depending on the severity of symptoms. They need careful supervision.”
• Physical therapy: “Often recommended to maintain mobility and muscle strength as the muscle strength with time goes down, making simple tasks harder.”
• Cognitive behavioral therapy: “Can help patients manage stress, which can exacerbate symptoms.”

More on supporting muscle health:

4 Ways to Speed-Heal a Pulled Muscle in Your Back + Why Leg Stretches Can Help

The 5 Best Chair Exercises for Back Pain That Are Easy to Do Right at Home

Experts Reveal the Best Vitamin to Keep Muscles Strong as You Age + How to Get More

This content is not a substitute for professional medical advice or diagnosis. Always consult your physician before pursuing any treatment plan .