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On 8 December 2022, Canadian singer Celine Dion revealed that she has been diagnosed with Stiff Person Syndrome. Celine announced that the diagnosis has caused her to delay the European leg of her 2023 tour that was scheduled to begin in February. “Unfortunately, these spasms affect every aspect of my daily life, sometimes causing difficulties when I walk, and not allowing me to use my vocal chords to sing the way I’m used to,” Celine tearfully said in the Instagram post. “It hurts me to tell you today this means I won’t be ready to restart my tour in Europe in February.”
Celine Dion’s diagnosis has drawn attention to this little publicised, rare and debilitating condition. In the UK, approximately 1 in 200,000 individuals, both male and female, are affected by Stiff Person Syndrome (SPS).
What is stiff person syndrome?
Stiff Person Syndrome is a very rare condition that is not well understood. The condition was first identified in the 1950s by Moersch and Woltman in the US and was originally known as Moersch and Woltman syndrome.
According to the National Institute of Neurological Disorders and Stroke, it is characterised by “fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms.”
Stiff Person Syndrome (SPS) has been divided into different types.
The differences are based on the clinical and physical manifestations, and they include:
- Classic Stiff Person Syndrome – This is the most common type of Stiff Person Syndrome. Symptoms of classic Stiff Person Syndrome include muscle rigidity, stiffness and spasms in muscles of the trunk, especially the back and limbs. Initially this may be experienced as intermittent muscle rigidity. Muscle spasms vary greatly in intensity and duration, though often become worse over months or years. As a result of the muscle spasms, especially if there are continuous contractions in the back and abdominal muscles, some people develop an exaggerated sway back posture called lordosis.
- Focal Stiff Person Syndrome or Stiff Limb or Partial Stiff Person Syndrome – In some people with Stiff Person Syndrome, the muscle stiffness and spasms might only be in a limb, usually one leg, though it may be in both legs. There may also be leg jerking. Walking may become increasingly difficult. Eventually the trunk muscles may also become involved, similar to classic Stiff Person Syndrome symptoms.
- Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) – This is a more severe form of Stiff Person Syndrome, usually associated with rapid deterioration. Encephalomyelitis means a disease which impacts the brain and spinal cord. This form of Stiff Person Syndrome may include jerky muscle contractions (myoclonus), abnormal eye and eyelid movements, seizures, cognitive and behaviour changes, and difficulty swallowing, along with problems regulating blood pressure, heart rate and body temperature.
- Paraneoplastic Stiff Person Syndrome – This is an even less common type of Stiff Person Syndrome, a rare form of a very rare disorder. Paraneoplastic describes autoimmune antibodies in association with tumours which may or may not be cancerous. Tumours associated with Stiff Person Syndrome include those of the thymus, colon, lung, breast and ovary. Lymphoma, a cancer of the lymphatic system, has also rarely been associated with paraneoplastic Stiff Person Syndrome. In paraneoplastic Stiff Person Syndrome there is an increased chance of finding antibodies to either amphiphilic, a brain protein, or to glycine receptors, which are central nervous system receptors. In both situations, antibodies to amphiphilic or to glycine receptors, when the underlying cancer is treated, the Stiff Person Syndrome symptoms often improve. To emphasise, most people with Stiff Person Syndrome do not have cancer associated with Stiff Person Syndrome.
- Stiff Person Syndrome with Cerebellar Ataxia – This type of Stiff Person Syndrome has an overlap with cerebellar ataxia, which indicates people have muscle incoordination. They may have ataxia with walking, and may have abnormal eye movements, persistent double vision, vertigo and dizziness.
What are the signs and symptoms of stiff person syndrome?
When it comes to early warning signs, people typically notice that their muscles are not working as they used to. They may have trouble walking or may fall more often. There are other conditions that cause similar problems, so it is very important to talk to your doctor about any signs or symptoms in order to rule conditions out and get a diagnosis.
The symptoms of classic Stiff Person Syndrome are muscle rigidity, stiffness and painful spasms in muscles of the trunk, including the back and limbs. The muscle spasms and stiffness are highly variable in their severity and rate of worsening.
Loud or sudden noises often exacerbate symptoms and, in some cases, can trigger intense full-body muscle spasms causing people to freeze like a statue and fall. This can result in injuries including concussions, broken bones and bruises, as well as anxiety and a fear of open spaces.
People may become homebound and isolated, and walking may become more difficult. Emotional stress often makes symptoms worse. Living with chronic pain and decreased mobility may also lead to considerable psychological distress and depression.
In the early stages of Stiff Person Syndrome, symptoms of increasing and decreasing back stiffness may be subtle. Both the spasms and the stiffness can fluctuate a lot on a day-to-day basis and over months and years. The stiffness and rigidity do not necessarily progress at the same rate or intensity as the muscle spasms.
There can be periods when the symptoms seem stable and other times when the worsening is more noticeable and rapid. However, for most people there is a worsening of stiffness and muscle spasms over the long term. The muscle spasms may be brief, lasting minutes, though at other times can last hours or days and cause severe pain. The fluctuations may be influenced by medications, activity and other interventions.
With the continuous back and abdominal muscle contractions which cause the spasms, people can develop an exaggerated sway back posture called lordosis. Some develop a hunched posture in the upper spine, called kyphosis.
The stiffness may affect limbs to a different extent. The stiffness along with rigidity can contribute to an unsteady gait. Walking may become difficult, and people become more prone to falls and injury. Sometimes overall mobility becomes more difficult and a variety of assistive devices including a walker or wheelchair may be necessary.
The risk of falling may heighten anxiety and lead to reluctance or a fear of leaving one’s home. Living and coping with chronic pain and decreased mobility may also lead to significant emotional depression and anxiety. Many people with Stiff Person Syndrome endure different degrees of disability, ranging from difficulty walking, even with assistive devices, to being so incapacitated that they are bedridden.
Physical or emotional stress can worsen Stiff Person Syndrome symptoms, either abruptly or with a more sustained worsening. For some people, abrupt loud noises, unexpected physical contact such as being bumped, or just cold weather, can precipitate worsening.
This is very unpredictable and variable. These stimuli may trigger a problem one day though not the next. Also, changes in medications or other therapies can sometimes unintentionally worsen symptoms.
There are other less common symptoms of Stiff Person Syndrome including shortness of breath or a sense of requiring more work to breathe. Some patients report spasms of the face or a change in their appetite, which may also be caused by medications.
What causes stiff person syndrome?
Scientists don’t yet understand what causes Stiff Person Syndrome, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord. It is frequently associated with other autoimmune diseases such as Type 1 diabetes, thyroiditis, vitiligo and pernicious anaemia.
What are the risk factors of stiff person syndrome?
As scientists don’t know what exactly causes Stiff Person Syndrome, risks are relatively unknown and there is no known way to prevent it.
Stiff Person Syndrome is extremely rare, and can develop at any age, but the condition is most commonly seen in adults between the ages of 30 and 60. The disorder is also more likely to occur in people with other types of autoimmune diseases. More than 50% of patients have a coexisting non-neurological autoimmune disease, such as Type 1 diabetes or autoimmune thyroid disease.
There is a very real risk of misdiagnosis. Stiff Person Syndrome can be underdiagnosed and can be mistaken as generic back pain or a psychiatric diagnosis, or it can be overdiagnosed. Patients with fibromyalgia or other primary pain disorders, spinal cord diseases or variants of amyotrophic lateral sclerosis (ALS) are sometimes initially diagnosed with Stiff Person Syndrome.
Living with stiff person syndrome
Stiff Person Syndrome is a chronic, lifelong condition.
The prognosis varies from person to person based on a few factors, including:
- Symptom severity.
- How quickly the condition progresses.
- How well treatment helps.
Starting treatment soon after symptoms begin is essential to prevent or lessen the syndrome’s progression and avoid long-term complications. Most people with Stiff Person Syndrome improve with medications, but it can still be difficult to manage triggers that cause muscle spasms.
Stiff Person Syndrome is complex and often unpredictable. Over time, walking can become more and more difficult. Your ability to perform daily, routine tasks may also decline over time. The increased risk of falls also becomes a growing concern as Stiff Person Syndrome worsens. Some people may need to use a stick, walker or wheelchair for assistance.
Because Stiff Person Syndrome is such a rare condition, first-hand accounts of living with the condition are also rare. However, Jacqui Atkinson was diagnosed with Stiff Person Syndrome after six years of suffering from the condition. She is the author of the book One in a Million: living with stiff person syndrome (ISBN-13 : 978-1910223000) which recounts her experiences.
How is stiff person syndrome diagnosed?
Stiff Person Syndrome is often misdiagnosed as Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia. A definitive diagnosis can be made with a blood test that measures the level of glutamic acid decarboxylase (GAD) antibodies.
Most people with Stiff Person Syndrome have elevated (higher) levels of GAD antibodies. Antibody titres are important for the diagnosis of Stiff Person Syndrome. A titre is a laboratory test that measures the presence and number of antibodies in the blood. Elevated GAD titres, up to 10 times above normal, also are seen in diabetes but in Stiff Person Syndrome the titres are very high, at least 10 times above the range seen in diabetes or are present in the spinal fluid.
How is stiff person syndrome treated?
Whilst there is no cure for Stiff Person Syndrome, there are treatments, including anti-anxiety medicines and muscle relaxants, that can slow down its progression. These treatments are based on the individual’s symptoms. The goal of treatment is to manage symptoms and improve mobility and comfort.
The two main treatment strategies include:
- Medications and therapies for symptom management.
- Immunotherapy, or disease-modifying treatment.
People with Stiff Person Syndrome have very different responses to treatments, so medications are carefully tried and evaluated by the patient and their doctors. It is not possible to reliably predict which medications will be effective for an individual, though some experts report that the types of Stiff Person Syndrome antibodies in a person might influence which immunotherapies are most likely to be effective.
For the symptomatic relief of muscle spasms and pain, muscle relaxants may be prescribed, such as:
- Baclofen (Lioresal) – May be given orally or directly infused into the spine with an implantable pump which requires surgery.
- Benzodiazepine group including diazepam (Valium) and clonazepam (Klonopin).
- Tizanidine (Zanaflex).
- Methocarbamol (Robaxin).
- Botox injections – Paralyses muscles around the site of injection.
- Dantrolene (Dantrium) – First doses usually given intravenously in a hospital.
Immunotherapy is the use of medications or other interventions to address specific abnormalities in the function of a person’s immune system.
Although in its infancy, Stem Cell Therapy research is proving to help with the treatment of Stiff Person Syndrome in most cases.
Therapies that may also help manage symptoms include:
- Physical therapy.
- Hydrotherapy (water therapy).
- Heat therapy.
Anxiety and depression are often part of Stiff Person Syndrome. Mental health therapy focuses on addressing depression and anxiety, as well as pain and chronic illness and its complications, and is provided by an experienced qualified therapist. Treatment can include different types of talk therapy and medication. Cognitive behavioural therapy (CBT) is often helpful.
Anyone suffering from Stiff Person Syndrome or supporting someone with the condition can get advice and support from: