Stiff Person Syndrome and EDS

Are Ehlers Danlos Syndrome and Stiff Person Syndrome linked? 

Stiff Person Syndrome (SPS) and Ehlers-Danlos Syndrome (EDS) are two distinct but rare disorders, each profoundly affecting the lives of those diagnosed. While Stiff Person Syndrome is primarily a neurological condition with an autoimmune component, Ehlers-Danlos Syndrome is a connective tissue disorder impacting the musculoskeletal system. Here, we’ll explore the symptoms, causes, and treatment approaches for both, highlighting their unique characteristics and the shared challenges in diagnosis and management. Although, EDS and Stiff person syndrome are different conditions, there are veryrare cases in which a person may have both.

What is Stiff Person Syndrome?

Stiff Person Syndrome is a rare and progressive neuromuscular disorder that mainly affects the central nervous system. People with Stiff Person Syndrome experience severe muscle stiffness and painful spasms, which can lead to a rigid posture and limited mobility. These symptoms are often triggered by stress, sudden movements, or environmental stimuli, such as loud noises. SPS typically begins with symptoms in the trunk and lower limbs but can eventually spread to other areas, causing significant physical limitations. Anxiety, emotional stress, and even sudden noises can exacerbate these symptoms, contributing to heightened muscle activity and discomfort.

Types of Stiff Person Syndrome

• Type 1 SPS: Linked to autoimmune diseases, such as type 1 diabetes, and often involves antibodies against GAD65, an enzyme crucial for nerve signal regulation.
• Type 2 SPS: Associated with certain cancers (paraneoplastic SPS) and presents with anti-amphiphysin antibodies.
• Type 3 SPS (Idiopathic SPS): Lacks a known autoimmune or cancer link but shows similar symptoms.

Diagnosing Stiff Person Syndrome typically involves a clinical evaluation of symptoms, blood tests to detect specific antibodies (like GAD65), and electromyography (EMG) to assess muscle activity during spasms.

Ehlers-Danlos Syndrome Overview

Ehlers-Danlos Syndrome encompasses a group of heritable connective tissue disorders marked by hypermobile joints, stretchy skin, and tissue fragility. This syndrome results from genetic mutations that impact collagen, a protein vital to the integrity of skin, joints, and other connective tissues. People with Ehlers-Danlos Syndrome often experience chronic pain, joint dislocations, and fatigue due to joint instability and muscle strain.

The most common type, Hypermobile Ehlers-Danlos Syndrome (hEDS), is characterized by joint hypermobility and associated musculoskeletal pain. Other types, like Classical EDS (cEDS) and Vascular EDS (vEDS), present more severe complications, such as easily bruised skin or, in the case of vEDS, a risk of arterial rupture.

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Comparison of Stiff Person Syndrome and EDS: 

EDS and Stiff Person Syndrome Symptoms Comparison

• Stiff Person Syndrome Symptoms: The primary symptoms of Stiff Person Syndrome include persistent muscle stiffness, spasms, and postural instability, often creating a board-like rigidity in the trunk and legs. Episodes of muscle spasms may lead to sudden falls and physical injuries, and people with SPS may adopt a widened gait to maintain balance.
• Ehlers-Danlos Syndrome Symptoms: In contrast, EDS presents with loose, hypermobile joints prone to dislocation, skin that bruises or tears easily, and chronic pain due to the body’s constant effort to stabilize unstable joints. Muscle stiffness can occur as a compensatory response, where muscles are continuously activated to support loose joints.

EDS and SPS Causes and Mechanisms

• Stiff Person Syndrome: SPS is believed to be an autoimmune disorder, as many patients show antibodies that interfere with GABA production, a neurotransmitter that typically inhibits excessive nerve activity. This interference leads to overactive muscle responses, causing continuous contractions and co-contractions of opposing muscles.
• Ehlers-Danlos Syndrome: EDS is a genetic disorder that affects connective tissue structure and function. The genetic mutations involved often impact collagen, leading to tissue that is more fragile and less capable of supporting the musculoskeletal system, resulting in joint instability and hypermobility.

Diagnostic Approaches

Diagnosing these conditions can be challenging due to their rarity and complexity.

• Stiff Person Syndrome Diagnosis: Physicians look for signs such as rigidity in the trunk and limbs, along with high levels of GAD65 antibodies in blood tests. Electromyography (EMG) is another essential tool, as it shows abnormal muscle activation even at rest.
• Ehlers-Danlos Syndrome Diagnosis: EDS diagnosis typically involves a physical examination, family history, and genetic testing to identify collagen-related gene mutations. The Beighton scoring system assesses joint hypermobility, one of the criteria for hypermobile EDS.

Treatment Approaches

For both Stiff Person Syndrome and Ehlers-Danlos Syndrome, treatment primarily focuses on symptom management and quality of life improvement, as neither condition has a cure.

• SPS Treatments: Treatment often involves muscle relaxants like diazepam and baclofen to reduce spasms, as well as immunotherapies such as intravenous immunoglobulin (IVIG) to address the autoimmune component. Physical therapy is beneficial, though exercises must be carefully adapted to avoid triggering spasms.
• EDS Treatments: Management for EDS often involves physical therapy aimed at improving joint stability without overtaxing the muscles. Gentle strengthening exercises, proprioceptive training, and balance exercises help prevent joint injuries. Pain management medications, along with braces or supports, can provide stability for joints during daily activities.

Challenges and Outlook

Both SPS and EDS require lifelong management due to their chronic, often progressive nature. Individuals with Stiff Person Syndrome may need continuous immune-based treatments, while those with EDS benefit from structured physiotherapy for joint stabilization. The complexity of these disorders underscores the need for ongoing research into more effective treatments and a multidisciplinary approach, involving neurologists, geneticists, physiotherapists, and pain management specialists.

For those living with Stiff Person Syndrome or Ehlers-Danlos Syndrome, understanding their unique needs and seeking early, individualized treatments can significantly impact preserving mobility, managing pain, and improving overall quality of life.

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Can you be stiff and have EDS?

While Ehlers-Danlos Syndrome (EDS) is typically associated with joint hypermobility, some people with EDS do experience muscle stiffness, especially as they age. This stiffness, however, is not the same as Stiff Person Syndrome (SPS), a rare neurological disorder that causes severe and painful muscle spasms, leading to “locked” muscles.

In people with EDS, stiffness is often the body's attempt to stabilize hypermobile joints. Due to joint instability, the brain may instruct surrounding muscles to remain partially contracted to provide additional support. Over time, this constant muscle engagement can lead to a feeling of tightness or stiffness, even though the joints themselves are overly flexible.

As people with EDS get older, they might transition through different phases, including a “stiffness phase,” where chronic pain and reduced mobility can become prominent. However, this stiffness is generally more diffuse and related to muscular compensation rather than the intense, uncontrollable spasms seen in Stiff Person Syndrome.

While both EDS-related muscle stiffness and SPS involve increased muscle tone, they arise from different mechanisms. Stiffness in EDS results from compensatory muscle tension, while SPS is a neurological disorder marked by involuntary, intense muscle spasms that may freeze the body in place. Therefore, although someone with EDS can feel “stiff,” this does not equate to having Stiff Person Syndrome.

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Celebrities with Stiff Person Syndrome and other case reports:

Céline Dion’s Battle with Stiff Person Syndrome

Céline Dion, the beloved international music icon known for her powerful voice and emotional performances, has been candid about her struggles with Stiff Person Syndrome (SPS). This rare and progressive neurological disorder has profoundly affected her life, impacting her mobility, ability to sing, and overall well-being. In 2022, Dion publicly revealed her SPS diagnosis, a condition that affects only about one or two people per million. Since then, she has used her platform to raise awareness about the challenges of living with this debilitating condition.

The Impact of Stiff Person Syndrome on Céline Dion’s Career

Dion’s SPS journey began subtly, with early symptoms she experienced as far back as 2008 during her Taking Chances world tour. She recalls feeling a strange loss of control over her voice, describing it as “skidding” and becoming tight, sensations that she now understands were early signs of the disorder. For years, Dion faced undiagnosed muscle spasms, balance issues, and cramping that affected her performances, forcing her to rely on high doses of Valium to manage her symptoms. This reliance, though, posed serious health risks, leading her to eventually seek alternative solutions with her medical team.

The symptoms of SPS worsened over time, leading Dion to postpone her highly anticipated Las Vegas residency in 2021 and later cancel the North American leg of her world tour in early 2022. As the muscle spasms intensified, it became clear that this was more than just a temporary health setback. By December 2022, Dion took to social media to share her official SPS diagnosis with fans, explaining the physical toll it was taking on her daily life and her ability to perform. "These spasms affect every aspect of my daily life," she said, noting how the stiffness and pain often prevent her from walking comfortably or using her vocal cords as she once did.

Managing Stiff Person Syndrome: Céline’s Treatment and Recovery Journey

Since her diagnosis, Dion has dedicated herself to a comprehensive treatment plan designed to manage her symptoms. Treatment for Stiff Person Syndrome typically includes a mix of muscle relaxants, sedatives, and immune-modulating therapies like intravenous immunoglobulin (IVIG), which Dion now receives regularly. IVIG, administered through infusions, helps reduce the autoimmune attacks that contribute to the muscle rigidity and spasms characteristic of SPS.

In addition to medication, Dion undergoes extensive physical, vocal, and aqua therapy sessions. She has described her routine as similar to that of an athlete, working intensively on her muscles and voice five days a week. Despite the grueling nature of this regimen, Dion remains determined, saying, "I want to be the best I can be. My goal is to see the Eiffel Tower again!" These therapies have allowed her to regain some strength, though she admits that progress can be unpredictable, with occasional severe episodes still impacting her.

A New Chapter: Dion’s Return to the Stage

In a highly anticipated comeback, Dion performed at the 2024 Paris Olympics opening ceremony, delivering a moving rendition of “L’Hymne à L’Amour” by Edith Piaf from the Eiffel Tower. This performance was a powerful testament to her resilience, marking her first public appearance on stage since announcing her diagnosis. Shortly before this event, Dion shared her experiences in a documentary, I Am: Céline Dion, providing fans with an intimate look at her life with Stiff Person Syndrome. The documentary includes raw moments of her battling painful spasms, showcasing the courage it takes to live with a condition that often leaves her vulnerable and in pain.

In an emotional scene from the documentary, viewers see Dion enduring a spasm during a physical therapy session, where she remains conscious but unable to control her body as it contorts in pain. This glimpse into her reality resonated with many, highlighting the often-overlooked physical and emotional toll of SPS. Reflecting on these episodes, Dion candidly shared, "Every time something like this happens, it makes you feel so embarrassed… like to not have control of yourself.” The openness of Dion’s journey has drawn praise from SPS patients and medical professionals alike, as her visibility has shone a light on the disorder, fostering greater public understanding and support for SPS research.

Looking Ahead: Hopes and Uncertainties

While Stiff Person Syndrome has no cure, Dion’s commitment to her recovery offers hope and inspiration. In recent interviews, she has expressed her intention to return to performing more regularly, although she acknowledges that her health may sometimes necessitate last-minute cancellations. "I’m going to go back on stage, even if I have to crawl," she said with characteristic determination. Her physician, Dr. Amanda Piquet, notes that Dion’s progress has been significant but underscores the unpredictable nature of SPS, where stress or infections can sometimes trigger relapses.

Through the challenges, Dion remains optimistic, even sharing that her “happiness has come back” now that she can focus on managing her condition without hiding from the public. Her story has already inspired many, including those living with SPS, to find resilience amid adversity. By opening up about her journey, Dion has brought invaluable attention to Stiff Person Syndrome, potentially encouraging further research and improved treatment options for those affected by this life-altering disorder.

Ayli Dunk: A Young Girl’s Journey with Stiff Person Syndrome

Ayli Dunk, a 14-year-old from Illinois, faced a sudden and severe onset of symptoms after a routine jaw surgery in January 2022, leading to a complex diagnosis that includes Stiff Person Syndrome (SPS). Initially, when Ayli woke from anesthesia, she didn’t recognize her parents and struggled with basic functions like walking and speaking. Her symptoms rapidly escalated, including episodes of severe muscle cramping, twisting, and stiffness. Doctors initially attributed her symptoms to psychological causes, but Ayli’s mother, Lindsey Sutherland, persisted in seeking answers.

Months later, Ayli was diagnosed with autoimmune encephalitis—her immune system had mistakenly attacked her brain, likely triggered by the anesthesia from her surgery. This rare immune response eventually led to symptoms of Stiff Person Syndrome, where Ayli's muscles would painfully cramp, leaving her unable to move. Lindsey described her daughter’s suffering: "It felt like my bones were all breaking," Ayli would say as her body contorted from the intense spasms.

Dr. Juliann Paolicchi, a pediatric neurologist, provided Ayli with a treatment plan involving Intravenous immunoglobulin (IVIG), a form of immune therapy to control her symptoms. Although there is no cure for SPS, IVIG has helped Ayli return to some semblance of normalcy. Today, she experiences fewer episodes of cramping and has even returned to activities like basketball and golf. For Ayli and her family, the goal is to keep life as normal as possible, managing her condition with monthly IVIG treatments and ongoing support.

The Rare Case of Ehlers-Danlos Syndrome and Stiff Person Syndrome

Sarah, has been diagnosed with both Ehlers-Danlos Syndrome (EDS) and Stiff Person Syndrome (SPS). She experiences intense muscle spasms that cause frequent dislocations, affecting her neck, skull, and other joints. She describes the impact of her conditions, saying, "My neurological system goes crazy and decides to make all of my muscles spasm... They pull all of my bones out of place. I literally dislocate my neck and my skull." Despite these severe symptoms, Sarah has become an advocate and peer support worker, motivated to spread awareness about these rare conditions. She highlights the need for more connective tissue disorder specialists in Michigan, where resources for EDS and SPS are limited, noting, "I don’t want anyone to ever have to live like me... In Michigan, we desperately need a connective tissue disorder specialist because there is none."

Sarah’s reliance on benzodiazepines, including Valium, helps her maintain basic functions like speaking and walking. She emphasizes that this medication is a necessity for managing her conditions, not an addiction, stating, "I am on a lot of benzodiazepines in order for me to be able to talk or walk... We are not drug addicts; we are just trying to live a normal life." Through her story, Sarah aims to increase awareness and push for better support and medical resources for those with EDS and SPS. She expresses her appreciation for the opportunity to advocate, saying, "Stiff Person Syndrome is a real thing, and Ehlers-Danlos absolutely affects the entire body... I greatly appreciate this opportunity to be able to share with you about these two conditions."

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FAQ

Understanding Stiff Person Syndrome (SPS)

What is the root cause of stiff person syndrome?

The exact cause of Stiff Person Syndrome (SPS) is unknown, but researchers believe it may be an autoimmune reaction. The immune system appears to attack a protein called glutamic acid decarboxylase (GAD), which is important for producing gamma-aminobutyric acid (GABA), a neurotransmitter that helps control muscle movement.

What diseases are similar to stiff person syndrome?

Conditions that share some symptoms with SPS include multiple sclerosis (MS), Parkinson's disease, and fibromyalgia. Each of these can involve muscle stiffness, spasms, or neurological symptoms but differs in underlying cause and treatment.

Is stiff person syndrome a form of MS?

No, SPS is not a form of multiple sclerosis (MS), though both can involve neurological symptoms and muscle stiffness. SPS is a distinct condition, primarily autoimmune, while MS is an immune-mediated disease that damages the nerves themselves.

Can you be stiff and have EDS?

Yes, people with Ehlers-Danlos Syndrome (EDS), especially hypermobile types, may experience muscle stiffness due to muscle overcompensation to stabilize loose joints. However, this stiffness is typically different from the severe spasms seen in SPS.

What is a differential diagnosis of stiff person syndrome?

Diagnoses that doctors may consider when assessing SPS symptoms include Parkinson's disease, MS, and generalized anxiety disorder, as all can involve neurological or muscular symptoms. Electromyography (EMG) and antibody testing often help distinguish SPS from these conditions.

Who Is Affected and Life Expectancy

Who is more likely to get stiff person syndrome?

SPS is more common in women and often appears between ages 30 and 60. It is very rare, affecting only about one or two people per million.

What celebrity has stiff person syndrome?

Céline Dion is a well-known figure who publicly revealed her diagnosis with SPS, raising awareness of the condition’s impact on mobility and quality of life.

What is the life expectancy for stiff person syndrome?

Life expectancy varies widely with SPS and depends on symptom severity and access to effective treatment. People with SPS can live many years but may experience significant quality-of-life challenges and require ongoing management.

Symptoms and Progression

What are the first symptoms of stiff person syndrome?

Initial symptoms often include muscle stiffness and aching in the torso and limbs, along with occasional muscle spasms. These can be triggered by stress, sudden movement, or environmental stimuli, like loud noises.

What are the final stages of stiff person syndrome?

In advanced stages, SPS can lead to severe, persistent muscle rigidity that affects the entire body, making movement extremely difficult and increasing the risk of falls and fractures. Mobility and independence may be significantly limited.

Do you lose weight with stiff person syndrome?

Weight loss isn’t a direct symptom of SPS, but physical limitations and muscle pain may impact daily activities and appetite, potentially leading to unintentional weight loss in some individuals.

Living with SPS

Can stiff person syndrome go away?

Currently, there is no cure for SPS. However, treatment can help manage symptoms, potentially reducing their frequency and intensity.

Has anyone ever recovered from stiff person syndrome?

While full recovery is rare, some people experience partial symptom relief with consistent treatment, allowing them to regain some level of function and improve their quality of life.

Can you hug someone with stiff person syndrome?

Yes, though it’s best to be gentle, as unexpected touch or pressure can sometimes trigger muscle spasms. Communicating with the person about their comfort level is recommended.

Can you touch someone with stiff person syndrome?

Yes, you can touch someone with SPS, but light, careful contact is ideal, as some people may be sensitive to touch. Sudden or firm contact can potentially trigger muscle spasms.

Treatment and Management

What is the diet for stiff person syndrome?

There is no specific diet for SPS, but a balanced diet can support overall health and energy. Some people find anti-inflammatory foods helpful for general well-being, though this doesn’t directly address SPS symptoms.

Is SPS a terminal illness?

SPS is not typically classified as a terminal illness, but its progressive symptoms can severely impact mobility and quality of life. With appropriate treatment, many people manage symptoms and maintain their quality of life for years.

References:

• National Institute of Neurological Disorders and Stroke. "Stiff Person Syndrome Information Page." National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services, https://www.ninds.nih.gov/health-information/disorders/stiff-person-syndrome.
• National Organization for Rare Disorders. Ehlers-Danlos Syndrome & Stiff Person Syndrome: Sarah's Story. National Organization for Rare Disorders, https://rarediseases.org/videos/ehlers-danlos-syndrome-stiff-person-syndrome-sarahs-story/.
• "Ehlers-Danlos Syndrome & Stiff Person Syndrome: Sarah's Story." National Organization for Rare Disorders, YouTube, 21 May 2020, https://youtu.be/ChBq8O5yXf4.
• Lowe, Lindsay. "How is Céline Dion’s Health? What She's Shared About Stiff Person Syndrome Battle." Today, NBCUniversal News Group, https://www.today.com/health/celine-dion-health-rcna98154.
• Lenthang, Marlene. "Celine Dion Suffers a Spasm in Raw Documentary Scene, Casting Spotlight on Stiff Person Syndrome." NBC News, NBCUniversal Media, 26 June 2024, https://www.nbcnews.com/news/us-news/celine-dion-spasm-documentary-stiff-person-syndrome-rcna159068.