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23 March, 2020 00:00 00 AM

5 Things you should know about Stiff-Person Syndrome

The Mighty
5 Things you should know about Stiff-Person Syndrome

JULIA METRAUX

If you have ever lost control of your body and fallen down unexpectedly, you know that can be a terrifying experience. For many people, this may just be a one-time, albeit worrying, experience. For people who have stiff-person syndrome, however, this can be a normal part of their lives.

Stiff-person syndrome (SPS) is a progressive neurological disease that affects the nervous system. It’s believed to be a type of autoimmune disease, where your immune system attacks healthy parts of your body, in this case your brain and spinal cord. Symptoms may include forceful and prolonged muscle spams and stiffness, sensitivity to noise and touch, and mental health issues.

SPS, like many rare diseases, can take years to diagnose, People with SPS are often misdiagnosed with conditions like conversion disorders or anxiety.

One of the challenges of diagnosing stiff-person syndrome is that symptoms can differ greatly between patients.

There is no cure for SPS, and treatment focuses on managing patients’ specific symptoms. The lack of research and treatment options can be frustrating for patients, which Mighty contributor Angela Davis, who has SPS, explained in an article:

We feel like we’re just screaming down an empty and bleak tunnel. Only our unanswered echoes surround our hard work to hunt down medical attention and relief from the dangers of our suffering. Please, to all medical researchers, we are more than worthy of your time and efforts.

We’ve put together five facts for people who are interested in learning more about stiff-person syndrome or think they may be living with it themselves. Read on to learn more.

1. It’s unclear if stiff-person syndrome is an autoimmune condition.

Experts know SPS symptoms are caused by issues in your nervous system, especially the brain and spinal cord, areas associated with movement control. What, exactly, causes these central nervous system issues isn’t quite as clear.

Stiff-person syndrome does show patterns that resemble an autoimmune condition, where an overactive immune system attacks healthy parts of your body. Stiff-person syndrome has been associated with diabetes and other autoimmune conditions, including thyroiditis and vitiligo.

2. Almost all people with stiff-person syndrome experience anxiety.

Muscle spasms are one of the main symptoms of stiff-person syndrome, which can be forceful and cause people to fall. Spasms may be unexpected for they can be triggered by emotional distress, after being touched or if they are startled, according to the Genetic and Rare Diseases Information Center. Other common symptoms include muscle stiffness or rigidity and difficulty walking.

However, one symptom that at least 80% of people with stiff-person syndrome experience is anxiety (or other mental health conditions). In the case of SPS, the anxiety is an actual symptom of this rare condition. However, many people with SPS also experience stress as the result of trying to cope with the disease and worry about having unexpected spasms.

3. A diagnosis for stiff-person syndrome is often made by ruling out other diseases.

When evaluating a patient for stiff-person syndrome, doctors typically evaluate a patient’s symptoms, review their medical history, perform an exam and order tests to support the diagnosis. SPS shares symptoms with many other diseases, so doctors may rule out other health conditions before making a stiff-person syndrome diagnosis.

Tests could include a hemoglobin A1C test to rule out diabetes, a complete blood count to rule out pernicious anemia, or a thyroid-stimulating hormone (TSH) test to rule out thyroiditis. Electromyography, a test that records muscles at rest and during contraction, may also be used to diagnose people with SPS.

One common tool used to diagnose SPS is a blood test to detect the presence of glutamic acid decarboxylase (GAD) antibodies, a type of protein in your immune system designed to attack foreign objects. GAD is a protein contained in some of your neurons responsible for making a substance that helps control your movements. Around 60 to 80% of people with SPS test positive for GAD antibodies.

4. Stiff-person syndrome treatment varies depending on a patient’s symptoms.

There’s no cure, so treatment for stiff-person syndrome aims to control symptoms and improve a person’s mobility. As symptoms for SPS differ from person-to-person, so do treatment options. Standard therapies for managing SPS include taking a medication like a benzodiazepine (often used to treat acute anxiety), taking a muscle relaxant like baclofen or receiving immune-modulating therapies.

Physical and occupational therapy can also be helpful at both managing symptoms and slowing down the progression of the disease. The Cleveland Clinic recommended that patients work with physical and occupational therapists who are familiar with the disease in order to not make symptoms worse.

As anxiety and depression are often associated with SPS, mental health treatment may be important as well. This may include working with a psychotherapist or a psychiatrist who can prescribe medication. However, be sure if a psychiatrist is prescribing medication they know you have stiff-person syndrome, because some antidepressants can worsen SPS symptoms.

5. The cause of stiff-person syndrome is unknown.

Stiff-person syndrome is generally not a genetic disease, similar to most autoimmune conditions. It’s not inherited from your parents and the exact cause of SPS is unclear. There have been cases where multiple people in the same family were diagnosed with this condition. It’s more likely you will be the only person in your family to be diagnosed with the condition.

Some genetic factors may involved in the cause of stiff-person syndrome, potentially in connection to glutamic acid decarboxylase (GAD). The specifics are speculative, and it’s an area of research medical experts will need to look into more closely.

 

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Editor : M. Shamsur Rahman

Published by the Editor on behalf of Independent Publications Limited at Media Printers, 446/H, Tejgaon I/A, Dhaka-1215.
Editorial, News & Commercial Offices : Beximco Media Complex, 149-150 Tejgaon I/A, Dhaka-1208, Bangladesh. GPO Box No. 934, Dhaka-1000.

Editor : M. Shamsur Rahman
Published by the Editor on behalf of Independent Publications Limited at Media Printers, 446/H, Tejgaon I/A, Dhaka-1215.
Editorial, News & Commercial Offices : Beximco Media Complex, 149-150 Tejgaon I/A, Dhaka-1208, Bangladesh. GPO Box No. 934, Dhaka-1000.

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