Multiple award-winning singer Celine Dion shocked the world Thursday, announcing she has a rare neurological disorder called Stiff-Person Syndrome (SPS).
In Dion’s Instagram video she says: “Recently I have been diagnosed with a very rare neurological disorder called Stiff-Person Syndrome, which affects something like one in a million people. While we’re still learning about this rare condition, we now know this is what’s been causing all of the spasms that I’ve been having.”
According to the National Institute of Neurological Disorders and Stroke, SPS has features of an autoimmune disease and is characterized by fluctuating muscle rigidity in the trunk and limbs, as well as a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can trigger muscle spasms. It’s often misdiagnosed as Parkinson’s disease, multiple sclerosis, or fibromyalgia. Researchers are still trying to understand the disorder, and currently there is no cure.
According to Yale Magazine, the cause of this extremely rare disease is still unknown. But researchers suspect that it may be the result of an autoimmune reaction where the body attacks nerve cells in the central nervous system that control muscle movement.
Symptoms can lead to difficulty walking and, over time, even greater disability. People with Stiff Person Syndrome are also more likely to have symptoms of depression and anxiety. In part, this is because of the unpredictability of the disease, but patients also have lower levels of the neurotransmitter GABA, which regulates anxiety.
Most people start experiencing symptoms between the ages of 30 and 60.
Reaching a diagnosis for Stiff Person Syndrome can be difficult. Generally, SPS is suspected based on characteristic symptoms. A comprehensive medical history and examination, along with additional investigations, including blood tests and spinal fluid analysis, can confirm the diagnosis. When conducting those tests, your doctor is looking for elevated levels of GAD antibodies.
Electromyography or EMG is also sometimes recommended to study the electrical activity of skeletal muscles. Your doctor will be looking for typical motor unit activity findings that are common in people with SPS.
Doctors will also rule out other possible causes of symptoms, including Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia.
There is no cure for Stiff Person Syndrome. When doctors treat patients with this condition, they focus on relieving symptoms with medications such as sedatives, muscle relaxants, and steroids. Intravenous Immunoglobulin and plasmapheresis, among other immunotherapies, may also be prescribed. Physical, occupational, and aqua therapy are also important for patients with SPS.
For more from Yale click HERE.