STIFF-PERSON SYNDROME.

March 15 is International Stiff Person Syndrome Awareness Day, so I thought I’d create awareness about this rare disease.

15 years ago, when I was in the throes of unexplainable symptoms cropping up and doctors having absolutely no idea what to do with me, I started experiencing full body paralysis. I’d be paralyzed from the neck down for hours at a time. There was never really any relief, and after bouncing from one doctor to another, I finally landed in a neurologist’s office. (One of the best doctors and humans I know; Professor James Jowi) He saw me for about 6 months before he made an SPS diagnosis. At that time, he had met only one other person suffering from SPS, and our symptoms were polar opposites. I did numerous tests, with most being sent to Germany, Israel, and the US. Finally, we had a diagnosis, Stiff-Person Syndrome (SPS).

With SPS, it feels like my internal organs are being crushed; every day of my life, I battle against tremors, trembling, and muscular vibration on the inside while it is embarrassingly evident on the outside; I feel the tiny muscle fibers all over my body rip, tear, freeze, burn, seize, like rubber bands; my thighs squeeze and crush my kneecaps; I have intense vertigo (a sensation that you, or the environment around you, is moving or spinning); Intractable shoulder, neck, and skull spasticity can cause cluster migraines that can continue for days; excruciating pain jabs all over my body; Every physical effort I make—whether it be trying to walk, take a shower, or wash dishes—causes my muscles to become progressively more tense throughout my body. Sometimes, I experience “partial” SPS where the muscle contractions and stiffness are limited to the limbs, or sometimes a single limb. The stiffness begins in one limb and remains most prominent there; for me, that is my left side of the body.

Definition.
SPS is a rare, progressive, neuromuscular disorder that occurs in about one in a million people. It is characterized by progressive rigidity, stiffness, and painful muscle spasms that happen anywhere in the body from the abdomen, chest, back, arms, legs, torso, diaphragm and more. SPS causes painful muscle spasms that are sometimes so severe that they can break bones & tear tendons. Spasms can be triggered by unexpected or loud noises; physical touch or stimulation; stressful events, or changes in temperature, including cold environments.

The cause of SPS is thought to be autoimmune and it often co-occurs with other autoimmune diseases, like in my case, with Lupus (SLE), Rheumatoid Arthritis, Polymyositis, Antiphospholipid Antibody Syndrome (APS) & Mixed Connective Tissue Disease (MCTD)

Signs and symptoms.
Stiff-person syndrome (SPS) is often separated into several subtypes based on the cause and progression of the disease.
There are three clinical classifications of SPS:

1. Classic SPS, associated with other autoimmune conditions and usually GAD-positive; (this is me)
2. Partial SPS variants
3. Progressive encephalomyelitis with rigidity and myoclonus (PERM)

The “classic” form of SPS affects about 70% of patients. Individuals with classic SPS may first notice sporadic tightness or discomfort in the trunk muscles (chest, abdomen, pelvis & back). These muscles contract unintentionally and repeatedly, which causes them to thicken and become inflexible. The affected person’s range of motion eventually decreases, their voluntary motions become slower, and they may have aberrant posture as a result of their rigidified muscles. Moreover, rigid trunk muscles might limit the expansion of the chest and abdomen, which can lead to shortness of breath and early satiety. Muscle rigidity gradually spreads from the trunk to the limbs in many SPS patients, first affecting the muscles nearest to the trunk and then spreading further. Stiffened limbs can impair balance and stride, leading to awkward “statue-like” falls where the affected person can not put out their arms to soften the impact.

Many people with SPS experience increased stiffness as well as episodes of muscle spasms that are brought on by rapid movements, emotion, or fright. A spasm happens when muscle suddenly moves involuntarily. Blood pressure, pulse rate, body temperature, and sweating may all be increased during spasms. Some people have persistent muscle soreness. The muscle stiffness initially fluctuates, sometimes for days or weeks, but gradually begins to persistently impede mobility. Patients can lose their ability to walk or bend as the illness worsens. Acute pain can also happen occasionally, but chronic pain is more prevalent and gets worse over time. Stress, cold weather, and infections lead to an increase in symptoms, and sleep decreases them.

Superimposed spasms and high sensitivity to touch and sound are both experienced by SPS patients. Mostly, the proximal limb and axial muscles experience these spasms. Spasms frequently last a few minutes and can reoccur for several hours. Spasms can strike at any time and are frequently brought on by rapid movements, mental tension, or abrupt sounds or touches. Rarely, abnormal eye movements, vertigo, and damage to the chest, hands, feet, and face muscles can also occur.

A lot of people with SPS also have neurological and psychological issues in addition to their physical symptoms. Individuals with SPS have numerous neurological problems that impact physical reflexes and the movement of the eyes. Some also experience anxiety, depression, substance abuse, and phobias – particularly agoraphobia. Most patients are psychologically normal and respond reasonably to their situations. 

Diagnosis

There is no specific laboratory test that confirms the presence of SPS. However, a combination of tests can be used such as:

• Antibody testing – A definitive diagnosis can be made with a blood test that measures the level of glutamic acid decarboxylase (GAD) antibodies. Most people with SPS have elevated (higher) levels of GAD antibodies.
• Electromyography (EMG) is a technique for evaluating and recording the electrical activity produced by skeletal muscles (these are the muscles attached to the bone that help with body movement). It demonstrates involuntary motor unit firing in SPS patients.
• Lumbar puncture – a sample of cerebrospinal fluid is tested for the presence of GAD antibodies.

As with many rare diseases, diagnosis may take anywhere from 7 – 10 years. I am one of the “lucky” ones because my diagnosis took 3 years. SPS is often misdiagnosed as Parkinson’s disease, multiple sclerosis, ankylosing spondylitis, fibromyalgia, psychosomatic illness, or anxiety and phobia.

Treatment and management.

There is no cure for SPS, but there are treatments that can help with management such as:

1. Benzodiazepines: such as diazepam and clonazepam are used as sedative, muscle relaxant, and anticonvulsant. They are known for improvement in stiffness and spasm symptoms with long-term benzodiazepine treatment.
2. Use of muscle relaxants such as baclofen, both oral and intravenous. It’s known especially for improving muscle stiffness. I have been on the maximum recommended dosage since 2008.
3. Intravenous immunoglobulin (IVig) is the best second-line treatment for SPS. It often decreases stiffness and improves quality of life and startle reflex. It, however, is very expensive and  has serious side effects.
4. Immunosuppressant therapies like Rituximab. This is used for many autoimmune diseases with favourable results.
5. Neuropathic pain medications such as pregabalin & gabapentin. Neuropathic pain occurs when there is damage to the nervous system, that is, peripheral nerves, the spinal cord, and the brain.
6. Plasma exchange therapy (plasmapheresis) is used mainly for patients who don’t respond to first-line therapy.

Therapies that may also help manage symptoms include physical therapy, massage, hydrotherapy, heat therapy & acupuncture.

Fortunately, my loving family is willing to assist in any way they can. Unfortunately, most chronic illness patients will suffer abandonment when faced with illness and diagnosis. Medical professionals claim that their patients regularly experience this brutality from friends and family, and this raises a whole new level of disbelief in patients’ minds and does not alleviate the intractable, ongoing bodily suffering. Hopefully, through my awareness efforts, you can learn how to support your family & friends through life-changing diagnoses.

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