A year ago, Celine Dion, the Grammy-winning icon behind some of pop music’s most recognizable songs, stepped back from touring after revealing she suffered from stiff person syndrome (SPS), a rare and barely understood neurological disease.
The Steep Cost of Stiff Person Syndrome
Stiff person syndrome is an extremely rare, disabling neurological disorder. Its hallmark is progressively worsening muscle stiffness and painful spasms that hamper movement. Loud noises, stress, or touch can trigger temporary but agonizing full-body muscle spasms.SPS arises from the immune system attacking the central nervous system—specifically the brain and spinal cord. Over time, ever-increasing rigidity and tightening of muscle groups lead to extreme, chronic pain and limited mobility.
- People between 30 and 50 years old.
- People with other autoimmune illnesses, especially Type 1 diabetes.
- Women.
Difficult Path to a Diagnosis
Initial SPS symptoms often vary widely between patients, frequently vague and mimicking other disorders. This complicates securing an accurate diagnosis.Some may experience heightened sensitivity to touch or startle reflexes from unexpected movements, triggering muscle spasms. Over time, increasing body stiffness spreads from the core to the limbs, severely restricting mobility.
The difficulty in diagnosis means some people can go years before they receive confirmation that this is what’s causing their health issues, Dr. Scott Newsome, director of the Johns Hopkins Stiff Person Syndrome Center and a professor of neurology, told The Epoch Times. He calls the path to diagnosis an “odyssey” for patients.
Misdiagnoses also abound, Dr. Newsome said, since common ailments like Parkinson’s can appear related until proper testing.
“So people will get diagnosed with fibromyalgia, will get diagnosed with functional neurological disorder, multiple sclerosis, Parkinson’s disease—before they come to see someone like myself,” he added.
However, over-diagnosis occurs, too; some referred patients show no SPS markers. Achieving the correct diagnosis requires symptoms fully aligning with SPS’ clinical profile.
Potential Causes and Triggers of SPS
While the exact SPS cause remains unknown, evidence suggests an autoimmune mechanism because the body’s immune defenders wrongly target healthy tissue—specifically neurons that use the chemical messenger GABA to inhibit overactivity. With inadequate GABA regulation, motor neurons can fire excessively, triggering stiffness and spasms.When large numbers of cases are analyzed, about 30 percent of people with SPS have been found to have Type 1 diabetes, another immune disorder, according to Dr. Newsome.
Many people with SPS also have additional autoimmune diseases like pernicious anemia—though which disorder manifests first is still unknown. These co-occurring conditions indicate autoimmunity underlies SPS as well. “We can just say that they’re associated,” Dr. Newsome said.
Available Treatments
Treating stiff person syndrome usually requires a multidimensional care approach focused on managing symptoms and supporting quality of life.Medications may incorporate muscle relaxants, anti-seizure drugs, and anti-anxiety agents to relieve muscle tightness, spasms, and fear associated with attacks.
Symptom relief has been achieved with drugs that enhance GABA neurotransmission, Dr. Newsome said. These can include diazepam, vigabatrin, and baclofen. These compounds can calm the overactive motor neurons driving stiffness.
Lifelong but (Usually) Not Life-Threatening
While not directly fatal, SPS still profoundly destroys the quality of one’s life. People with advanced stiff person syndrome face substantial life challenges. Chronic pain, mental anguish, and radically diminished capabilities often require high-level assistance with daily living.Though incurable and progressively disabling, the rarity of SPS results in minimal research funding. Dr. Newsome noted that SPS science relies heavily on private donations.
“No amount is too small,” he added, emphasizing that further research is the key to winning the fight against this degenerative condition.
