Q&A with Amanda Piquet, MD 

What exactly is Stiff Person Syndrome, and how long has it been around? 

SPS is a rare, chronic, autoimmune neurologic disease that was first described in 1956 at the Mayo Clinic. It was originally called stiff man syndrome. Its typical symptoms are stiffness, muscle spasms, and difficulty walking. Our understanding of this disorder has evolved since the 1950s, but it's still a very rare disease. 

Do you know how people get the disease? 

We don't know for sure. It's probably a combination of being predisposed to autoimmune disease, just like lupus or rheumatoid arthritis, as well as genetics, potential environmental factors, and then, unfortunately, bad luck. But we don't know about specific triggers. 

How many patients do you see with it in a typical year? 

In a year’s timeframe, I probably follow in clinic about 50 patients with this disease. I know it is quoted as a rare disease of one in a million, but these numbers may be low due to underdiagnosis and misdiagnosis. 

Is it an easy condition to diagnose? 

It is very difficult to diagnose. It often takes years to get that diagnosis, and it is not unusual for a patient to have symptoms years before they are formally diagnosed. Because it's such a rare disease, and it's not something that everyone is aware of, it often gets misdiagnosed. We also don't have a perfect test for it. There are things that can help us diagnose the disease, like antibody testing and EMG or electromyography, but we don't have a single perfect test. It’s a clinical diagnosis.

Interview by Greg Glasgow.