Stiff person syndrome is characterized by muscle rigidity and spasms, heightened sensitivity to stimuli such as sound and lights, and emotional distress that can cause muscle spasms, according to the National Institute of Neurological Disorders and Stroke.
“It frequently is associated with muscle spasms, which could be quite severe. These can cause falls, severe pain and significant disability,” said Dr. Emile Sami Moukheiber of the Stiff Person Syndrome Center at Johns Hopkins Medicine. “Falls from severe spasms are very common. These spasms can be precipitated by startle, severe emotions, cold weather.”
These spasms can be strong enough to fracture bone, and any fall can lead to severe injury.
Dion said in her video that spasms affect “every aspect” of her daily life, “sometimes causing difficulties when I walk and not allowing me to use my vocal cords to sing the way I’m used to.”
The syndromes symptoms can also cause anxiety.
“Many patients, if not all, have an anxiety that is intrinsic to the disease and that anxiety actually feeds on the physical ailments of the disease that people can have,” Dr. Scott Newsome, director of the Stiff Person Syndrome Center, said in a video on the organization’s website.
Although the exact cause isn’t clear, according to the institute, “people with SPS have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain.”
Because of the rarity of the disease and the ambiguity of its symptoms, people will often seek care for chronic pain before they get neurological care. On average, it takes about seven years for someone to receive a diagnosis of stiff person syndrome, Newsome says.
“Sometimes, [patients] get labeled crazy,” he said, “because on exam early on, there aren’t the hallmark features of stiff person syndrome.”
There is no known cure for stiff person syndrome, but medications can ease the symptoms. Immunoglobulin medications can help lower sensitivity to light or sound triggers, potentially helping head off falls or spasms.
Pain relievers, anti-anxiety medications and muscle relaxers can be a part of treatment for this disease. The Stiff Person Syndrome Center also uses botulinum toxin injections.
“If left untreated, the disease can cause severe impairment of daily living,” Moukheiber said.