Pratique du Shadowing: Ataxia Series: The ataxia exam - Phenomenology, classification, and a practical diagnostic roadmap - Apprendre l'anglais à l'oral avec YouTube
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Hello and welcome to the NDS podcast,
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Hello and welcome to the NDS podcast,
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the official podcast of the International Parkinson's and Movement Disorders Society.
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I am Orlando Barsotini, professor of neurology at Federal University of Sao Paulo, Brazil.
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And today I'm here with Dr. Bartz van de Varenboer.
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He is professor of neurology and head of Expert Center for Rare and Genetic Movement Disorders at Radboud University Medical Center.
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Today we are discussing the topic,
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the ataxia exam, phenomenology, classification, and practical diagnosis roadmap.
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Bart, thank you for joining us.
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Hi, Orlando.
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Thank you for having me.
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It's a real pleasure to contribute to this podcast series on attack shares.
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Bart, as we have different forms of ataxia,
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including, for example, cerebellar ataxia,
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sensory ataxia, and sometimes a combination of both.
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Could you tell us about your clinical approach with emphasis on the gait examination and phenomenology, please?
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Sure.
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Many patients with cerebellar disease will notice gait difficulties as the very first manifestation.
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If you see a patient with a gait ataxia,
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indeed, we first have to establish that this is actually of cerebellar origin origin.
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And I think people often think of cerebellar ataxia gate as being broad-based,
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but this is actually a compensatory element that kicks in later in the disease.
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And interesting thing is that the phenomenology of gate ataxia changes during disease progression.
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So in the very early stages,
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patients might only have an abnormal tandem gate performance and perhaps a slightly hesitant first step after return.
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And what happens next is actually not the broad-based element, but variability.
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Variability as the keyword and variability in step length and step width.
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The patient starts to deviate from the straight line to both sides.
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Some of them will have a relatively high gait speed.
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And this is something interesting.
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You And you can also play with the gait,
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ask patients, if you see this,
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to slow down a bit or perform the tandem gait a bit slower, perhaps.
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And then later, you will see the broad-based gait kicking in and the gait slowing down.
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And sometimes you see stiffening of the knees,
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again, as a compensatory element.
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So you see the dynamics of gait ataxia as disease progresses and it's intertwined with these changing compensatory efforts.
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And in the next stage,
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patients will need to use supportive devices,
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otherwise they will fall because of their severe balance difficulties.
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And I think, as you mentioned,
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we have to rule out other neuroanatomical sources of Atexia,
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sensory causes for which we will do the full sensory examination and see what happens through the gait upon eye closure.
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You want to rule out the frontal type of Atexia or a more modern term,
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higher level gait disorder.
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in which you will expect disproportionate balance difficulties,
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often also with cognitive changes.
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And lastly, I think a vestibular origin in which patients next to having complaints like dizziness,
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et cetera, will have gait deviation typically to one side consistently.
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And then we will need to look for additional cerebellar signs in the rest of the exam.
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And I think many of us as movement disorders experts put a lot of time
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and effort into the examination of the eye movements,
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and the cerebellar disease, you will expect,
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for example, to find fixation instability,
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square wave jerks, jerky pursuit,
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case evoked or downbeat nystagmus, and hypermetric saccades.
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You can perhaps hear cerebellar discharge via scanning speech,
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and find upper limb ataxia in the form of dysmetria and intention tremor.
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Bart, the topic of classification of Ataxia sometimes is not so clear,
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especially for no expert.
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You'll discuss a little bit more about the classification of Ataxia.
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There are hundreds of conditions that can lead to Ataxia
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and I think there have been many attempts to classify Ataxia from a practical or research perspective.
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This turns out to be very complex, easily outdated as well.
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I myself use a very simple framework that guides me through my thinking and practical workup.
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So I separate three main groups of Atexias.
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So we have acquired Atexias,
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we have genetic Atexias, and we have non-genetic degenerative Atexias.
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For example, the cerebellar type multiple system atrophy.
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That said, I think for the genetic ataxias,
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MDS study group on the genetic nomenclature movement disorders has done a very good job in listing the confirmed ataxia genes.
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But still many of us still use the old terms,
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for example, SCAR or SCA for the dominant ataxias.
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I think that's what it is.
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But again,
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I want to refer to my very simple framework as a way to provide guidance in what we think
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and do when confronted with an ataxia patient.
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Mark, like you said, we have different forms of the taxa,
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including acquired genetic and no genetic taxa.
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I have two questions now.
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What is the diagnostic roadmap you suggest for these different forms of the taxa?
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And what would be the importance of complementary exams such as brain MRI,
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GSF, and BetGun, all the classification and identification of different forms of detoxing?
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Yes, Orlando, to start with your second part,
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perhaps I think all the investigations should serve a purpose and in this scenario,
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trying to reach a diagnosis for a patient and not serving classification purposes unless it's for a research effort.
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In line with other movement disorders,
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I think history is really key and elements of the history will guide our differential tremendously.
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So things like onset age,
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rate of progression, the family,
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medical history, current drugs, et cetera, are of utmost importance.
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In general, I think we need to keep in mind that acquired causes of etectia are the most common ones.
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And what I use of these elements in the history most is perhaps the type of progression,
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the rate of progression.
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So if this is acute or subacute,
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the cause will most likely be acquired.
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And you will do the MRI.
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You will rule out drugs,
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metabolic causes, check for perineoplastic or other immune-mediated diseases, consider prion, et cetera.
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The second interesting presentation progression worries is if the ataxia is purely episodic.
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Because if this is the case,
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then the number of differential diagnostic groups to consider is very limited because generally this will either be something autoimmune,
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for example, anti-GAD or anti-Casper 2 antibodies,
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or be genetic like SCAR-27B or Kekna-1 and others.
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I think the most challenging category is the slowly progressive ataxia.
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And there, if you have a family history,
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this will be very helpful.
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And then you can jump to your genetics, I guess, immediately.
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But if not, you're left with a sporadic, slowly progressive ataxia.
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And then you still have this large differential covering all the three groups we just discussed.
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And I think in that scenario,
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we will also start with repressing for the MRI scan,
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ruling out acquired diseases and searching for clues pointing to a specific rare condition perhaps.
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We will do some minimal blood tests to rule out acquired causes like anti-GAD and the vitamins,
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etc. And then we will also do genetics in this sporadic, slowly progressive retexias.
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And here we want to make sure that we have access to testing the genes with repeat expansions as the mutational mechanism.
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These are the most common ones.
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And I think most labs are still doing this as separate tests.
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So what you request, make sure that the lab tests for these repeat expansions.
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This will change if we all have access to long read sequencing in the future.
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If repeats are negative, you can also look for the other non-repeat ataxia genes if you have access to next-generation sequencing platforms.
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And if the genes are negative,
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I think the next step is to consider whether your patient
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with the slowly progressive sporadic ataxia could perhaps have a cerebellar subtype of MSA.
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And I think the 2022 MDS criteria are very helpful to have a look at
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because I think these criteria would guide you through the workup
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to see whether your patient actually has clinically established a probable MSA.
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And if not, then your final interim diagnosis will be the sporadic adult onset detection
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or the over-term idiopathic late onset detection, ILOCA.
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And I think you have to follow up those patients.
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Follow up because new genes will come out and it might be useful to retest your patients.
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And I think the relatively recent discovery of SCAR-27B is a good example
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because this now explains many of the patients that we previously labeled as being ILoka.
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And I think you should be aware that patients can still convert to MSAC.
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There's also a reason to keep them in follow-up.
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Okay.
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Bart, now I have one of the most difficult tests for you.
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In the new era of technology and AI,
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with genetic testing become more available,
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Do you think that clinical skills will have a place in the evaluation of patients with a doctor?
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That's indeed a difficult question,
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Orlando, and my answer is clear.
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This is a yes.
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I know there are people who promote a genotype first strategy.
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I'm myself not an advocate of that.
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I strongly believe that you need a good,
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robust and certain phenotype to enter genetics.
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And the reason is that genetic testing often leads also to a variant of unknown significance.
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And if you have an uncertain phenotype to begin with and a vast from your genetics,
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then you are in trouble.
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So I think good phenotype to begin with is key.
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And the other aspect I want to mention is what we have been calling reverse phenotyping.
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So if you get a genetic test result back,
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you want to be sure that this can be matched to the patient's phenotype clinically and or radiologically.
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And for this, you really need to have done the full examination
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because many of the ataxia conditions will present with relevant non-ataxia features.
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Think about ataxia plus neuropathy or spasticity or dystonia.
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And these non-ataxia features can actually be quite discriminating and help you in this reverse phenotyping process.
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On the other hand, I think machine learning AI will be our new right hand in our work,
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clinical work and scientific work.
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And as an example, we are seeing machine learning-based analyses of gait and speech disturbances that can objectively quantify,
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track disease status and disease progression.
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And this we can deploy in clinical trials that are emerging.
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So there's certainly a place for AI machine learning in our etexia approach,
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in the clinics, in the research setting,
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what it will be next to and together with doctors and scientists.
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Okay, particularly I'm very happy with your answer.
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We are nearing the end of our interview.
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And now, what are the take-home methods to our listeners?
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The take-home message for me is that keep the clinical skills,
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do the full neurological examination in the patient
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and invest particularly in trying to pin down the cerebellar origin of the movement disorder you were confronted with.
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Play with the gait.
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Be mindful that gait detection is a dynamic feature.
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with the compensatory elements, for example,
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in modifying the speed of the gate task you are asking the patient to do.
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And what a nice thing is,
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Alando, I'm still learning myself as well.
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So I've been tweaking my neurological history,
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taking an examination along the ride.
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And as an example, a couple of years ago,
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the gene for the Kahn-Vas syndrome,
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so cerebellar dexia, neuropathy and vestibular earflexia syndrome was discovered expansions in rc1
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and based on those phenotypic descriptions i've been adding a question on chronic cough to my history
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and adding i had impulse tests to my examination
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so second message is don't stop learning perfect thank you bart for sharing these insights
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and thank you to our listeners for joining us.
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We hope this episode helped you approach a tax patient with greater confidence as a procedure.
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The views
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and opinions expressed by the participants in this podcast do not necessarily reflect those of the International Parkinson
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and Movement Disorders Society or their affiliated journals,
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Movement Disorders and Movement Disorders Clinical Practice.
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Any disclosures of the participants can be found within the episode description located on the MDS website.
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Context & Background
In the informative podcast episode titled "The Ataxia Exam: Phenomenology, Classification, and Practical Diagnostic Roadmap," host Orlando Barsotini engages in a meaningful dialogue with Dr. Bartz van de Varenboer. Both are esteemed professors in the field of neurology, shedding light on various types of ataxia, especially cerebellar ataxia, and the complexities of gait examinations. This discussion not only highlights the clinical aspects of ataxia but also provides insights into how different stages of this movement disorder can affect a patient’s condition, including their gait.
Top 5 Phrases for Daily Communication
- "Thank you for having me." - A polite way to express gratitude when joining a conversation.
- "Could you tell us about..." - Useful for requesting more information or clarification.
- "This is actually of cerebellar origin." - Important terminology when discussing medical conditions and origins.
- "We have to rule out other neuroanatomical sources." - A phrase that emphasizes thorough examination and diagnosis.
- "Gait difficulties as the very first manifestation." - Describing initial symptoms effectively in a medical context.
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