Q&A: What is stiff-person syndrome?
Click Here to Manage Email Alerts
On Dec. 8, Grammy award-winning artist Celine Dion announced that she would be rescheduling her 2023 tour dates after being diagnosed with stiff-person syndrome, a progressive neurological disorder.
Healio spoke with Anita M. Fletcher, MD, director of the Neuroimmunology Clinic and staff clinician at the NIH’s National Institute of Neurological Disorders and Stroke, to learn more about stiff-person syndrome.
Healio: Can you explain what stiff-person syndrome is?
Fletcher: Stiff person syndrome is a nervous system disorder that results in muscle stiffness, body rigidity, and painful spasms. It presents clinically with muscles spasms in the trunk and the limbs, but certainly it can affect other muscles, as well. The other component is what we call a hyper startle response. And, as a result, people with stiff-person syndrome can be very sensitive to noise, can be very sensitive to certain movements, and can also be very sensitive to emotional distress, all of which can set off muscle spasms. Stiff person syndrome is considered an autoimmune condition and is most often associated with anti-GAD antibodies.
Healio: Is stiff-person syndrome common?
Fletcher: It’s very rare. We don’t know the exact incidence and prevalence. You hear, “One in a million?” Stiff person syndrome is estimated to affect one in a million.
Healio: Are treatments available?
Fletcher: There are 2 types of therapies currently used: symptomatic and immunotherapies. Sedatives, muscle relaxers, even physical therapy have been used to improve symptoms. An important immune therapy that has been shown to be useful is IVIg (intravenous immunoglobulin), a treatment that interferes with the effects of the autoantibody. Plasmapheresis, a process to remove an antibody from an antibody positive patient with stiff-person syndrome, can also be used.
Patients that have these types of syndromes need to be certain to contact their physicians and share that they’re having these symptoms, because there is a large collaborative effort that’s required for rare diseases. And once we know that these patients have any symptoms, we can collaborate between centers and actually perform clinical trials to understand the disease progression.
Healio: Is there anything that we haven’t touched on regarding stiff-person syndrome that you think is important to highlight?
Fletcher: Stiff person syndrome is a rare disease. Rare diseases present specific challenges. Because of the few patients affected, collaborative efforts between academic centers are critical to perform clinical trials to understand etiology, progression, and to identify safe and effective treatments for rare diseases.