We’ve been following a large cohort of patients with pure autonomic failure in different centers across the United States and different countries. And we try to look for early signs of motor dysfunction, changes in their voice, in their handwriting. But features that stand out the most are those that we see in patients that are at a higher risk of developing multiple system atrophy in two to five years...
We’ve been following a large cohort of patients with pure autonomic failure in different centers across the United States and different countries. And we try to look for early signs of motor dysfunction, changes in their voice, in their handwriting. But features that stand out the most are those that we see in patients that are at a higher risk of developing multiple system atrophy in two to five years. And we look at their sense of smell, their urinary function, sexual function, and also their sweating. When we’re asking about olfactory function, we try to rely on standardized tests because we know that just asking them if they have any problems with their sense of smell is not enough. We may miss up to 70% of patients that have olfactory dysfunction by asking this question alone. When looking at urinary symptoms, we try to focus on urinary voiding dysfunction. The way that we do this is after ruling out urological causes like benign prostatic hypertrophy or pelvic floor prolapse, is doing an ultrasound immediately after they have gone to the bathroom, and we measure how much urine is left in the bladder. We know that patients that will develop or are at higher risk of developing multiple system atrophy start at a younger age, usually in their 50s or early 60s, and usually they present with earlier sexual dysfunction. We also notice that some of these patients will report that they start noticing a decrease in their sweating or a complete lack of sweating after some time. Once we have identified these patients and we have a higher diagnostic certainty of the diagnosis, we know that these different conditions will progress differently. They will have different complications over time and will respond differently to other medications. So we’re able to have a more informed conversation with their patients and their care partners about what to expect, which symptoms to prioritize, and to choose which medications will have a better response with less side effects. At the same time, having an earlier diagnosis provides a great opportunity for patients to join clinical trials or studies that hopefully may be able to help them or other people like them in the future. When we show these clinical cases in our course and when we try to display videos of these patients, we try to share our experience in how to identify and highlight these features so other people are able to pick them up and identify them at earlier stages. Sometimes it’s not easy to do this. It may look like normal variations or we may have a doubt whether this is due to arthritis in one hand or a shoulder injury. So it’s important to look how things progress over time and to look and see if other symptoms emerge.
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