Stiff-Person Syndrome (SPS) is an exceptionally rare neurological condition that affects the brain and central nervous system. Dr. Shahar Shelly, head of the Neuromuscular Clinic in the Department of Neurology at Rambam Health Care Campus (Rambam) in Haifa, Israel, sheds light on this incurable condition that has altered the life of internationally renowned singer and artist Celine Dion.
Dr. Shahar Shelley Explains Stiff Person Syndrome. Photography: Rambam HCC.
Since Celine Dion shared her struggle with the rare neurological condition called Stiff-Person Syndrome (SPS), millions of fans around the world have been monitoring her wellbeing.
Stiff-Person Syndrome is a rare autoimmune neurological disorder that commonly causes muscle stiffness and very painful spasms that can worsen over time. Some individuals also experience an unsteady gait, double vision, and slurred speech. Although there is no cure, working with a specialist physician towards controlling the symptoms can make living with the condition more manageable. “Noise, flashes of light and stress may trigger SPS – and characterize Dion’s life. There is no cure but there are some preventative treatments,” says Dr. Shelly, who is also the head of the Neuroimmunoloy Laboratory in the Faculty of Medicine at the Technion – Israel Institute of Technology. “SPS transforms its sufferers into ‘human statues’ because it ‘locks’ their bodies into a rigid posture. In extreme cases, the syndrome leaves them unable to move or causes partial paralysis.”
“The SPS morbidity rate is determined by the degree and areas of damage. SPS usually presents itself between the ages of 20–40 at onset and it is three times more common in women,” Dr. Shelly points out. “It is diagnosed through blood screening for antibodies such as GAD-65 and GlyR, present in about 80% of patients. It can also be detected with a two-channel electromyography (EMG) test that detects neuromuscular abnormalities. Lumbar puncture (spinal tap) and imaging techniques can also be used in diagnosing the rare syndrome.”
Typical symptoms include motor difficulties, changes in gait, spinal deformity, muscle spasms and pain, severe anxiety, and sensitivity to noise. According to Dr. Shelly, “The disease can also lead to esophageal motility disorders and difficulty in eating and drinking. Life-threatening conditions such as aspiration pneumonia” (a lung infection caused by inhaling saliva, food, liquid, vomit, or foreign objects).
How is SPS treated?
“Despite ongoing medical advancements, a definitive cure for Stiff-Person Syndrome (SPS) remains elusive,” as outlined by Dr. Shelly. Highlighting the current landscape, Dr. Shelly emphasizes, "There is still no cure for the disease." However, he underscores the pivotal role of supportive therapies in managing significant symptoms and slowing the progression of the condition. These therapies play a crucial role in enhancing the quality of life for individuals grappling with SPS. "Patients are commonly prescribed diazepam, a benzodiazepine family member known for its sedative and muscle relaxant properties," notes Dr. Shelly. Alternatively, the muscle relaxant Baclofen is another therapeutic avenue. Both drugs aim to alleviate symptoms and enhance daily mobility, thereby improving overall lifestyle for those affected by SPS.
In conclusion, Dr. Shelly adds, “SPS has several causes, and in most cases, it is a response to an autoimmune disorder. Treatment is cause-related, aiming to restore and balance the body’s immune system with the use of intravenous immunoglobulin therapy. Steroids and other biological treatments can also be used." Dr. Shelly highlights the potential use of steroids and other biological treatments, offering a multifaceted strategy in addressing the complexities of SPS.
Stiff Person Syndrome is frequently linked with the onset of diabetes, epilepsy, and various autoimmune conditions. Dr. Shelly emphasizes the direct connection between autoimmune diseases and mental well-being. In many instances, exacerbation in the patient’s condition is linked to events influencing the psyche or psychological state.
Dr. Shelly, is also a researcher and senior clinical lecturer at the Mayo Clinic in the USA, and in collaboration with the Clinic’s Translational Neuroimmunology Laboratory, their studies have uncovered how antibodies in SPS patients are linked to malignant diseases. These findings enhance our knowledge of how autoimmune disorders, mental health, and the biological mechanisms of SPS are interconnected.
Comentarios