Adam’s Journal
The daughter of one of my wife’s friends was recently diagnosed with something called stiff person syndrome. What is this condition? And what does the treatment landscape for it look like?
Dr. Scofield Prescribes
Once known as stiff man syndrome, stiff person syndrome is a rare autoimmune neurological disorder that, like most autoimmune conditions, is more common in women. Singer Celine Dion has been diagnosed with the condition.
As its name suggests, stiff person syndrome causes muscle stiffness, along with painful spasms. Other symptoms can include a stiff or unsteady gait, rigid posture and chronic pain.
In autoimmune disorders, the body wrongly attacks its own cells. In stiff person syndrome, scientists believe those attacks involve antibodies that interfere with the body’s nervous system. Those antibodies are also involved in type 1 diabetes, and many people with stiff person syndrome also develop type 1 diabetes.
Stiff person syndrome is marked by muscle contractions and spasms that often begin in the legs and back. The spasms often can be triggered by a number of factors, including being startled, moving suddenly, or experiencing cold temperatures or stress.
Because stiff person syndrome manifests in different ways in different people, the methods of treating it vary. And because the condition is so rare – it is thought to affect one to two people in a million, so fewer than 10 patients in Oklahoma – it can be difficult to draw general conclusions about the effectiveness of those treatments.
Doctors typically take a two-pronged approach to treating patients. To manage symptoms, they will prescribe muscle relaxants or medications that affect a particular neurotransmitter implicated in the condition. They will also sometimes use Botox to treat distinct areas of muscle tightness or spasms.
Physicians will also use immune therapies to modify or suppress the immune system. Most frequently, they use intravenous immunoglobulin, although they also sometimes prescribe other immunosuppressant drugs like rituximab.
For patients who fail to respond to I.V. immunoglobulin, a recent case report suggests that a therapy that is already approved for myasthenia gravis – another autoimmune illness – could be helpful.
A clinical trial of that therapy in people with stiff person syndrome is planned, but it has yet to begin. In the meantime, because the therapy has already been approved by the Food and Drug Administration for myasthenia gravis, patients can obtain it off-label if prescribed by their physician.
Finally, I should note that a host of non-drug therapies may make symptoms more manageable. Those approaches range from physical therapy, massage, and stretching to heating pads and electrical nerve stimulation.
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Dr. Hal Scofield is a physician-scientist at the Oklahoma Medical Research Foundation, and he also serves as Associate Chief of Staff for Research at the Oklahoma City VA Medical Center. Adam Cohen is OMRF’s senior vice president and general counsel. Send your health questions to contact@omrf.org.
