Transcript for What is stiff-person syndrome?
- What exactly is this syndrome?
- You know, Robin, when I was in medical school, we were not taught about this. This is incredibly rare, but as you heard, it's a neurologic condition that's often chronic. It's often progressive, and the hallmark features are spasms of muscles. Now, when you talk about muscles, we're talking head to toe. Right? So we need our muscles to swallow, to speak, to sing, to breathe, to walk, and that spasticity, those spasms, can be incredibly painful.
ROBIN ROBERTS: How is it diagnosed, and how is it treated?
- You know, misdiagnose is common. Underdiagnosis is common. It can often take years with a rare condition like this that most neurologists, by definition, have never seen. Oftentimes, it's a diagnosis of exclusion.
So we go through other neurologic conditions, say it's not that. And even though it's frustrating for the doctor and patient to know what it isn't, that's valuable information. A lot of times, it's a combination of blood tests, some neurologic tests, sometimes a muscle biopsy. And then when you arrive at someone saying to you, you have a rare condition, that is terrifying.
- I know, psychologically, the implications that must have.
- Right. Mental component, we you talk about it all the time, connecting the dots from the psychological, emotional, mental, to the physical. That is so important to always have hope, always give the patient hope. Give them support, even when there's not the answer that they might be looking for, and recognize that, when you're talking about a chronic condition, for which there may be no cure, there is management. And so if your symptoms are at a 10, even getting them to a 7 or a 5 on that symptom scale is going to be a victory, and that's what we need to remember and celebrate.
- Jen, thank you so much.
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