Scott Newsome, neurologist and director of the Johns Hopkins Stiff Person Syndrome Center, discusses the prevalence and presentation of stiff person syndrome and related spectrum disorders. He also shares an overview of diagnostic assessment and treatment options for these conditions.
Welcome. My name is Scott Newsome neurologist at johns Hopkins and director of our johns Hopkins stiff person syndrome center. Thank you for tuning in to you know, listen to this really important topic. SPS spectrum disorders. So stiff person spectrum disorders. I'll refer to this as S. P. S. D. Moving forward just to give you a little bit of demographic and important clinical characteristics of this disease. Uh So the prevalence is said to be one in two cases per million. However this really is probably more common than what's quoted and I'll get into that in a minute uh symptoms typically start in middle age. So forties to fifties. However, I will say I've seen Children with this disease. I've also seen people present in their 80s with the initial symptoms. So don't just pigeonholed people into what is textbook commonly uh females are involved. And this is similar to what other auto immune conditions. It's about 2 to 1. It takes several years actually for most people to get diagnosed from symptom onset to diagnosis. And in part this is because of this expanding spectrum of disorders that we're noticing that fall under this S. P. S. D. Umbrella. Now in specific clinical phenotype. The most common is what we call classic SPS. So this is what I think it's the most news uh And these are individuals that will present with torso rigidity spasms maybe in their abdominal musculature their back. They also will have leg spasms more than arms uh followed by SPS plus which is you know classic features plus brings them in or cerebellum involvement. So patients will come in for example with, let's say, a stiff leg, you know, rigid torso, but then they also have double vision. They have ocular motor problems, speech issues, gait, ataxia. Um So very important to recognize because again, from symptom onset to diagnosis, many of these people are many years out from their diagnosis. Uh then we have partial SPS which is typically patients who have just torso or leg involvement. So maybe it's rigid or spastic. Um Eventually over time, most of these patients will be deemed as having classic SPS. Then there's a potpourri of other phenotype that are less common, including perm maybe more pure service taxi and some overlapping syndrome. But I just want to give you an idea of this expanding clinical phenotype because again, we want to make diagnosis sooner because we have treatments available, which I'll talk about in a minute. That can really help I think improve quality of life for many people and maybe improve long term outcomes. Now on exam, the typical features that we will see with those involved in much of skeletal um uh system is Hyperloop doses. So we'll see some people with the Lord arctic curve being really hyper psychotic and very tight rigid torso spasticity can occur hyper reflexive via so anything that you have seen cause an upper motor neuron syndrome. We can see in person syndrome and it goes back to the thought of the gabba magic pathways being involved in hyper um excitability syndrome. So it's something to be aware of other things in terms of diagnostic work up. We will do a broad serological work up. Things specific or more specific I should say to S. P. F. D. R. Is the anti God 65 antibody test which is seen in up to 80% of people. How however, I will caution that if it's low positive you have to be uh suspicious that maybe they don't have sp sp because this can be seen low tighter and diabetes other neurological conditions. So it's really high tighter. We're talking tens of thousands, hundreds of thousands. Then there are other commercially available test called amplifies an antibody receptor antibody tests as well. We will do lumbar punctures in some of our patients will do E. M. G. S to look for co contraction agonist antagonist, uh muscle continues motor unit potential activity. But the rest of the work of honestly is ruling out other things. So looking to make sure there's no denial in eating disorders, no tumors. Uh to see maybe the work up is completely normal and maybe the person has a functional neurological disorder. Uh Now there are a small percentage of people that will have apparently a plastic ideology. Very low in percentage you can read about that usually breast cancer, small cell lung cancer and then on to treatment we like to do this combination approach of symptomatic uh and non pharmacological intervention along with immune based treatments. So Gabber ergic agonist like Valium Klonopin, back, Wilson um immune based treatments like I. V. I. G. Which is my first line and then plasma exchange riTUXimab self up in a whole host of other immune based treatments and then non medication interventions. Aqua therapy, acupuncture, acupressure massage therapy. There's a whole list of things and I will end with this uh that the combination of these treatments, in my experience has helped people the most. So it's not one extreme to the other and I thank you for your attention.