Celine Dion wowed the world singing at the Olympics, despite her struggle with a rare neurological disorder
After being diagnosed with a rare autoimmune disorder in 2022, Celine Dion stepped away from performing, vowing to someday return. She did so in a spectacular fashion: belting an Edith Piaf classic from the Eiffel Tower as the finale to the opening ceremonies of the 2024 Olympics in Paris.
Dion, 56, suffers from stiff person syndrome, a rare neurological condition that can cause progressive muscle stiffness, rigidity, and spasm involving the muscle of the trunk and can extend to the extremities, resulting in impaired walking, according to the National Institutes of Health. It is frequently associated with other autoimmune diseases such as Type-I diabetes, and less frequently with other autoimmune disease like thyroiditis, vitiligo (which affects skin pigment), and pernicious anemia, according to the NIH.
Dion disclosed her condition in 2022 but her bravery in Paris renewed interest in the syndrome, which has no known trigger or cure, said Mathew Pulicken MD, MHS, a neurologist at Cape Cod Hospital. However, it is extremely rare, he said.
“It’s less than one to two cases per million,” he said, comparing the likelihood to the odds in a lottery. “It's mostly presents between the ages of 20 and 50, and women are affected two to three times more than men.”
A new documentary about Dion, “I Am: Celine Dion” on Prime Video, details her struggles with the disease and even shows her dealing with a body spasm. We reached out to Dr. Pulicken for more details about stiff person syndrome and its causes and treatment. His answers have been edited for length.
What causes stiff person syndrome (SPS)? It is caused by increased muscle activity due to decreased inhibition of the central nervous system (CNS) from the blockade of glutamic acid decarboxylase (GAD), an enzyme critical for maintaining inhibitory pathways. When there is decline in the levels of gamma amino butyric acid (GABA) in the CNS, this leads to loss of neural inhibition and symptoms. It is mostly thought to be an auto immune disease, with the body producing antibodies against this enzyme. Less than 2 % of SPS can be associated with malignancies like breast or lung malignancies or Hodgkins lymphoma.
What are the symptoms? The common symptoms are generalized stiffness and frequent muscle spasms that can affect balance and walking. It usually starts as intermittent symptoms and can be progressive. There can be lots of other conditions that cause similar symptoms, like if you have arthritis in your lumbar spine or other big joints. But with SPS person syndrome, the trunk is more commonly affected than the extremities. Usually, the symptoms can fluctuate with intermittent spasms. That happened when Celine Dion was performing. In classic stiff person syndrome, there can be associated autonomic dysfunction which can lead to extra sweating, feeling your heart racing and your blood pressure dropping.
How is it diagnosed? If you or a loved one is experiencing symptoms, get evaluated by a neurologist to go through a detailed history of the symptoms and a neurological evaluation. This can help rule out other causes and if there is high clinical concern, there are lab tests to check for antibodies to the GAD, and those can be present for 60 to 80 percent of the people with the classic stiff person syndrome. But there are a few – maybe 15 percent – who don’t have the full spectrum of the disease, and these antibodies may be negative. EMG (electromyography) studies done by Neurologist can also help rule out other causes and help in the diagnosis.
How is stiff person syndrome linked to other issues? About 30 percent of people with stiff person syndrome will have associated Type 1 diabetes, but only about 0.01 percent of people with Type 1 diabetes will end up having stiff person syndrome. There are autoimmune diseases like– vitiligo, ankylosing spondylitis and thyroiditis, which can be seen in patients with SPS but the correlation is not as high as with Type 1 diabetes.
How do you treat stiff person syndrome? Most of the available medications are used to treat the symptoms and the drug of choice is benzodiazepines, as they modulate the levels and activity of GABA, inhibitory agents for the neural pathways. If the symptoms persist, muscle relaxants, especially baclofen, can be added, as it also targets the GABA. If not responding to the above agents with recurrent or worsening symptoms, IVIG – intravenous immunoglobulin – infusion or monoclonal antibodies, like rituximab, which can modulate the immune system can be tried. Continuing with physical activity as tolerated and maintaining an exercise program can also help with symptoms.
Are there side effects? Benzodiazepines can be used as a drug of abuse and people can get addicted to it. At higher doses, there are a lot of sedation and withdrawal effects if stopped abruptly. So, you need a confirmed diagnosis to consider medications. And even when you take medication, it must be under close supervision.
Is stiff person syndrome curable? There is no known cure for SPS and the goal would be to keep the symptoms under control with medications as above.
