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Stiff Person Syndrome: Causes, Symptoms, Treatment

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Stiff person syndrome

Stiff Person Syndrome: Causes, Symptoms, Treatment

Stiff person syndrome (SPS) is a rare autoimmune movement disorder that affects the central nervous system. It causes severe muscle stiffness, rigidity, and painful spasms in the trunk.

Stiff person syndrome starts with the muscles in your trunk and abdomen. Muscle spasms and stiffness may come and go in the early stages. However, after a while, the stiffness becomes continuous. 

This condition stiffens your leg muscles over time, followed by other muscles such as your arms and even your face. The treatment options aim to ease your symptoms while also improving your comfort.

Researchers are still unable to pinpoint the exact source of this disorder. However, they suspect that it is the outcome of an autoimmune reaction. The immune system attacks the central nervous system, which controls muscular movement, and as a result, a person can end up suffering from stiff person syndrome.

 

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What Is Stiff Person Syndrome?

Stiff person syndrome is a fairly rare autoimmune neurological disorder. It is also known as Moersch-Woltman syndrome. It was previously known as stiff man syndrome. 

SPS affects the brain and spinal cord. The muscles of the trunk tighten first in people with SPS. Over time, patients develop stiffness and rigidity in their legs and other muscles. SPS can sometimes induce painful muscle spasms.

SPS is a rare disease that affects only one in a million people. As a result, your chances of getting this condition are very low. However, if left untreated, SPS can seriously impair your quality of life.

 

What Causes Stiff Person Syndrome?

Researchers are not sure of the exact cause of stiff person syndrome. But medical research suggests that it may be a result of an abnormal autoimmune neurological disorder where your immune system targets healthy cells. 

Many people with this condition produce particular antibodies that target an enzyme called glutamic acid decarboxylase (GAD). GAD is a protein found in some neurons. It helps to produce gamma-aminobutyric acid (GABA). GABA is in charge of controlling muscular movement. 

Scientists believe that people with SPS have an immune system that wrongly attacks the GAD enzyme. This reduces GABA levels in the body. 

Medical research shows that some people with SPS have antibodies to amphiphysin, a protein involved in transmitting signals from one neuron to another. 

According to clinical trials, individuals with these antibodies may develop some cancers. They include: 

  • Breast cancer
  • Lung cancer
  • Colon cancer

How exactly GAD plays a role in the development of stiff person syndrome is still unknown. 

Some people with SPS do not have anti-GAD antibodies.

 

Risk Factors Associated With SPS

It is unknown what causes stiff person syndrome. This autoimmune disorder, however, is extremely rare. This syndrome affects around one out of every million people.

Furthermore, women are twice as likely as males to suffer from SPS. People between the ages of 30 and 60 are the most likely to develop it. 

Conditions With Increased Risk of Developing SPS:

 

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Symptoms of Stiff Person Syndrome

Symptoms of stiff person syndrome might appear over a few months to a few years. Some patients remain stable for years, while others slowly worsen.

Early Symptoms

The trunk and belly muscles are the first to stiffen and expand in most patients. 

Other related symptoms include:

  • Extremely painful muscle spasms
  • Stiff muscles in the trunk
  • Sensitivity to light, noise, and sound
  • Posture problems (you may hunch over)
  • Difficulties in walking
  • Limb stiffness
  • Aggressive sweating

Muscle Spasms

Muscle spasms can be extremely painful. They might even cause you to fall when you’re standing. If you are upset, your spasms will be more painful. Sudden movements, loud noises, and other factors might trigger spasms.

Later Symptoms

You may notice greater stiffness and rigidity in the later stages. Muscle stiffness can spread to other parts of your body, including the face. 

This includes the muscles used for eating and speaking. Also, there may be damage to your breathing muscles. This results in possibly deadly breathing issues.

Other Diseases Triggered by Stiff Person Syndrome

  • Several cancers including colon, lung, and breast cancer
  • Thyroid problems
  • Diabetes mellitus
  • Vitiligo
  • Pernicious anemia

 

Diagnosis of Stiff Person Syndrome

Your doctor will perform a physical exam and a review of your medical history. This way, he can determine if you have SPS. If your doctor suspects SPS, tests to confirm the diagnosis may be conducted.

SPS Tests

Blood Test 

A blood test determines the presence of glutamic acid decarboxylase (GAD) antibodies. A blood test can detect antibodies against GAD in 60% to 80% of people with SPS. However, the absence of GAD antibodies does not rule out SPS. High levels of GAD antibodies can help to confirm the diagnosis.

Lumbar Puncture

A Lumbar puncture searches for signs that suggest the presence of GAD antibodies. Lumbar puncture also helps in the diagnosis of various diseases.

Electromyography (EMG)

Your doctor may arrange an electromyography (EMG) test, which can detect muscular electrical activity.

SPS can be diagnosed in conjunction with epilepsy. It is occasionally confused with other autoimmune diseases, including multiple sclerosis (MS) and Parkinson’s disease. 

According to the research conducted at Johns Hopkins, SPS presents itself in a wide range of signs and symptoms. As a result, it mimics other diseases, often delaying diagnosis.

 

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Treatment of Stiff Person Syndrome

SPS has no known cure. Your symptoms will guide your treatment for stiff person syndrome. The goal of treatment is to ease the symptoms while also improving mobility and comfort.

Treatment Options

Immune modulating therapies

Immune modulating therapies often provide the best results, and intravenous immunoglobulin (IVIG) treatment is one option to consider. Clinical trials have demonstrated that intravenous immunoglobulin is effective.

IVIG treatment is also well-tolerated in terms of relieving the symptoms related to SPS. It is often used as a therapy for immune-mediated diseases, including SPS. IVIG works by reducing the number of antibodies attacking healthy tissues.

Autologous stem cell transplant

Autologous stem cell transplant is the process where your blood and bone marrow cells are first collected. They are then multiplied before being returned to your body. This is an experimental treatment that you can consider if all other options fail.

Plasmapheresis

Plasmapheresis is a process in which your blood plasma is exchanged for fresh plasma. This process lessens the number of antibodies in your body.

Medications 

You can treat muscle spasms and stiffness with one or more of the following medications:

  • Pain medications
  • Muscle relaxers
  • Benzodiazepines to relieve anxiety and muscle tension. High doses are used by doctors to treat muscle spasms.
  • A muscle relaxer called baclofen. Doctors use it for people with stiff person syndrome in whom benzodiazepines are not effective. In addition, some SPS-affected people benefit from using baclofen in addition to benzodiazepines.
  • Tiagabine, an anti-seizure medication.
  • Gabapentin, a type of medication that is used to treat nerve pain and seizures.

Severe depression and emotional distress are often associated with SPS. In such cases, antidepressants may help.

Physical Therapy

Your doctor may recommend you to a physical therapist in addition to medications. However, physical therapy alone cannot treat SPS.

According to medical research, physical therapy may help with drug side effects. In addition, the exercises may significantly help with:

  • Emotional well-being
  • Walking
  • Independence
  • Pain
  • Posture
  • Overall day-to-day function
  • Range of motion

 

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Complications of Stiff Person Syndrome

Stiff person syndrome (SPS) causes muscle spasms. These problems can hamper your daily life. You may experience problems including:

  • Frequently falling from standing
  • Severe anxiety and depression
  • Excessive sweating
  • Broken bones
  • Hunching over
  • Emotional distress

SPS can also increase your risk of having several other conditions. They include:

  • Type-I and Type-II diabetes
  • Cancer
  • Thyroid problems

 

The Prognosis for Stiff Person Syndrome

Because of your lack of stability, you’re more likely to fall if you have this condition. This increases your chances of suffering injuries and possibly becoming permanently disabled.

The prognosis for stiff person syndrome varies according to the individual’s symptoms.

Furthermore, the severity of the syndrome and the rate of decline vary from person to person.

Everyone reacts differently to treatment. For example, some SPS-affected people respond well to drugs and physical therapy. But others may not respond as well.

Contact your doctor if you get muscle spasms or stiffness in your trunk, arms, or legs. If you have any of the risk factors, talk to your doctor about stiff person syndrome.

You could also call a local university or tertiary medical center. These institutions have the most up-to-date technologies in the field of rare diseases.

You can find other related information at the National Institute of Neurological Disorders and Stroke. This organization collects and verifies all trials related to SPS.

 

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FAQs

What is the life expectancy of a patient with stiff person syndrome?

The life expectancy for people with SPS ranges from 6 to 28 years from the onset of the condition.

Can a person with stiff person syndrome have gluten in their diet?

According to medical research, people with SPS are gluten sensitive. Therefore, you should avoid gluten in your diet if you have stiff person syndrome.

Is stiff person syndrome progressive?

Stiff person syndrome is a rare progressive disorder. It causes progressive muscle stiffness, rigidity, and spasms. In the early stage, muscle stiffness may come and go. Over time, the stiffness becomes constant.

Is stiff person syndrome terminal?

Stiff person syndrome is a rare terminal condition. There are many treatment options available, but none can cure it. The treatment options aim to ease your symptoms while also improving your comfort.

Over time, SPS can limit your ability to move or walk. The overall course of SPS can range from 6 to 28 years from the onset of symptoms until the time of death.

Why is my body so tight and stiff?

SPS is an autoimmune disorder that causes muscle stiffness, rigidity, and spasms. In this condition, your body develops an antibody that attacks an enzyme known as glutamic acid decarboxylase (GAD). GAD helps in the production of a neurotransmitter called gamma-aminobutyric acid (GABA). GABA helps to control muscle movement. 

As a result, your body grows increasingly tight and stiff over time.

Can stiff person syndrome be cured?

There is no cure for this rare disease. In addition, doctors can confuse it with other autoimmune diseases. Multiple sclerosis (MS) and Parkinson’s disease are two examples.

Some treatment options can help you cope with the symptoms and offer relief. Among them, the best option is intravenous immunoglobulin (IVIG) therapy. IVIG works by decreasing the number of antibodies that attack healthy tissues.

Is stiff person syndrome a disability?

Stiff person syndrome can make you disabled. The symptoms develop slowly, and after some time, they may become severe, causing disability. 

If you are planning to get benefits from the Social Security Administration (SSA), you will need to meet SSA’s basic requirements for disability. You must be unable to work due to your medical condition. Furthermore, your condition must have lasted or be likely to last at least 12 months in a row.

 

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What causes a person to walk stiffly?

In stiff person syndrome, over time, leg muscles become stiff. As leg muscles become stiffer and stiffer, people with stiff person syndrome end up walking more stiffly.

How do you get stiff man syndrome?

Scientists are still unclear as to what causes SPS. However, research suggests that it results from a faulty autoimmune response in the brain and spinal cord. 

Stiff person syndrome is not a transmissive disease. This means you can’t get this disorder from other people. However, scientists believe that genetics may play a role in causing SPS in combination with other factors. 

Does exercise help stiff person syndrome?

According to medical research, exercise can help those suffering from stiff person syndrome. 

One report suggests many helpful exercises, which include:

  • Stretching
  • Range of motion (ROM) exercises for stiff areas
  • Lower back exercises
  • Pelvic tilt
  • Isometric abdominal exercises

 These exercises were found to be beneficial for:

  • Low back pain
  • Hyperlordosis
  • Mobility
  • Improving one’s function and ability to perform day-to-day tasks

If you are suffering from SPS, daily exercise is highly recommended.

Can stiff person syndrome kill you?

Stiff person syndrome can cause death. It is possible to die alone, frozen, and unable to move or call for help.

Can the COVID-19 medicine, tocilizumab, cure SPS?

According to a study, researchers saw improvement in SPS symptoms in a patient by using tocilizumab. However, to confirm this, more research is needed.

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