Stiff Person Syndrome: A Rare Neurological Disorder

When singer Celine Dion began to experience voice spasms, it was the first sign of stiff person syndrome, an extremely rare neurological disorder that can ultimately affect the entire body. Hesham Abboud, MD, a neuroimmunologist and movement disorder specialist at University Hospitals Cleveland Medical Center, shares more about this rare condition.

What is Stiff Person Syndrome?

“Stiff person syndrome (SPS) is an autoimmune condition that causes the body’s immune system to attack the central nervous system,” says Dr. Abboud. “It can begin as minor muscle cramps, often in the legs and back, and progress to severe, painful muscle spasms throughout the body. Untreated and over time, SPS can limit mobility and make walking very difficult or impossible.”

The disorder can cause the muscles to lock up, becoming stiff and rigid. In addition to chronic pain and muscle spasms, other symptoms may include:

• Loss of balance and an unsteady gait.
• Abnormal posture and severe stiffness of the muscles in the trunk.
• Exaggerated startle response and hypersensitivity to external stimuli.
• Shortness of breath if the chest muscles are affected.
• Spine misalignment and occasionally spinal cord compression.

SPS muscle spasms tend to be episodic and may be triggered by cold temperatures, emotional stress, loud noises, or anything that startles or surprises the person.

Who Is at Risk for SPS?

Stiff person syndrome is extremely rare. When it does occur, it’s most common in people ages 40 to 50. Thought to affect only one or two people in a million, SPS is more common in women and is often associated with other autoimmune disorders like type 1 diabetes, pernicious anemia and certain thyroid conditions. “Rarely, stiff person syndrome can happen in patients with known or undiagnosed cancer in the body. This variant of stiff person syndrome is referred to as ‘paraneoplastic’ and tends to be more severe,” says Dr. Abboud.

How Is Stiff Person Syndrome Diagnosed?

Many SPS symptoms can also be signs of other, more common conditions. An MRI of the brain and spine may be done to rule out other conditions that could be causing stiffness and rigidity.

If symptoms suggest SPS, additional tests may be recommended, including:

• Blood tests. Up to 80 percent of patients with SPS have high levels of a specific antibody in their blood.
• Electromyography (EMG). A test to evaluate the body’s nerve and muscle function.
• Lumbar puncture. A sample of spinal fluid is examined to look for certain markers that may indicate SPS, including abnormal antibodies.
• Cancer screening to rule out paraneoplastic stiff person.

Can SPS Be Cured?

There is no known cure for stiff person syndrome. However, there are many treatment options that can help manage symptoms, improve quality of life and potentially slow progression of the disease. Most people will require a customized combination of the following treatments to effectively manage their symptoms:

• Medications to reduce spasms, stiffness and pain.
• Botulinum toxin (Botox) injections to relieve muscle tightness in specific areas of the body.
• Anti-anxiety medications.
• Immunosuppressants to modify or suppress the immune system.
• Physical and/or aquatic therapy.
• Integrative medicine therapies, including chiropractic, massage, yoga and acupuncture.
• Cognitive behavioral therapy to help manage anxiety or depression.

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The neurologists, neuro-immunologists and movement disorder specialists at University Hospitals Neurological Institute have the expertise to recognize, diagnose and treat a wide variety of neurological disorders, including stiff person syndrome.