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Dr. Thorpy:
This is CME on ReachMD, and I’m Dr. Michael Thorpy. Here with me today is Dr. Anne Marie Morse.
First, let’s talk about the signs and symptoms of narcolepsy. Anne, the symptoms of narcolepsy are often quite subtle and often difficult to ascertain. So how do we recognize the main symptoms of narcolepsy, the excessive daytime sleepiness, the cataplexy, and the other abnormal REM phenomenon?
Dr. Morse:
This is a great question that very frequently can plague patients and make it difficult for them to actually achieve the diagnosis that will help them get to treatment.
It’s first important to recognize that when talking about narcolepsy, there are 2 types of narcolepsy: narcolepsy type 1 and type 2. And we’ll go over the symptoms of both. Excessive daytime sleepiness is the primary symptom that’s present in all individuals with narcolepsy, so it’s considered the most sensitive symptom because it’s present in 100% of people. It’s important to recognize excessive daytime sleepiness can have many different faces. In the clinic, we frequently use tools like the Epworth Sleepiness Scale to be able to identify whether or not the presence of sleepiness exists. This is using a scale that has 8 different sedentary activities that is asking what’s your likelihood to doze if you were to do one of these things, such as sitting and reading or in a meeting, et cetera. However, it’s important not to just stop there, because sleepiness is quite prevalent just in society in general. So looking at some other features that may be present includes things like disturbed nocturnal sleep – being able to fall asleep maybe very quickly, but having a difficult time staying asleep throughout the night. Other features can include sleep-related hallucinations. So as I’m falling asleep or waking up, I see things, hear things, feel things that don’t actually exist. There also can be features of sleep paralysis, feeling as though when I fall asleep or wake up, that I’m temporarily frozen or stuck. It feels like my brain is awake, I know that there’s a wakefulness around in the world, but my body isn’t yet ready to move. And then the final feature which is unique to narcolepsy type 1 is the feature of cataplexy. So when talking about the features of cataplexy, we typically are describing this as transient episodes of loss of tone or weakness that typically may occur in response to a strong emotional stimuli, such as intense laughter, or anger, or fear. This can look like a person falling completely to the ground while being able to be completely awake the entire time. However, more commonly, it’s a partial cataplexy or a focal onset, meaning that their heads may drop a little bit, mouth may slack open, dropping things from hands, or knee buckling.
In 2011, we learned through the work of Dr. Plazzi in Italy that children or those who have an acute onset of narcolepsy may not suffer from the typical form of cataplexy and may actually experience an atypical form, where they have active motor phenomena. And so that can look like eyebrow raising, tongue thrusting, even abnormal movements. However, typically these children will go on to evolve into the more typical form of cataplexy with weakness.
Some tools that are available for physicians who maybe don’t feel as comfortable eliciting a history of cataplexy is something like the Swiss Narcolepsy Scale, where it will use 5 different questions that get at some of these symptoms of narcolepsy and may help you identify a patient who may be more likely to have symptoms of narcolepsy.
Dr. Thorpy:
Well, it seems as though the most important thing in narcolepsy is the excessive daytime sleepiness. All patients must have some excessive daytime sleepiness. If there’s not sleepiness during the daytime, then patients don’t have narcolepsy, and I think as you have pointed out, a detailed history is most important in making the diagnosis, and if the patient has some weakness episodes where they fall to the ground but don’t have sleepiness, then it’s unlikely they have narcolepsy.
So there’s other REM sleep phenomena that you mentioned – the hallucinations, the sleep paralysis – they’re all very helpful in determining if the patient has narcolepsy. And of course, as you mentioned, we have these tools available to us, so there are some questionnaires we can use that will help us make the diagnosis.
Well, this has been a great micro discussion. Unfortunately, our time is up. Thanks for listening.
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