쉐도잉 연습: Ataxia Series: The ataxia exam - Phenomenology, classification, and a practical diagnostic roadmap - YouTube로 영어 말하기 배우기

Hello and welcome to the NDS podcast,

⏸ 일시 정지

재생 속도:

192 문장

문장이 너무 짧거나 길면 Edit를 눌러 조정하세요.

Hello and welcome to the NDS podcast,

the official podcast of the International Parkinson's and Movement Disorders Society.

I am Orlando Barsotini, professor of neurology at Federal University of Sao Paulo, Brazil.

And today I'm here with Dr. Bartz van de Varenboer.

He is professor of neurology and head of Expert Center for Rare and Genetic Movement Disorders at Radboud University Medical Center.

Today we are discussing the topic,

the ataxia exam, phenomenology, classification, and practical diagnosis roadmap.

Bart, thank you for joining us.

Hi, Orlando.

Thank you for having me.

It's a real pleasure to contribute to this podcast series on attack shares.

Bart, as we have different forms of ataxia,

including, for example, cerebellar ataxia,

sensory ataxia, and sometimes a combination of both.

Could you tell us about your clinical approach with emphasis on the gait examination and phenomenology, please?

Sure.

Many patients with cerebellar disease will notice gait difficulties as the very first manifestation.

If you see a patient with a gait ataxia,

indeed, we first have to establish that this is actually of cerebellar origin origin.

And I think people often think of cerebellar ataxia gate as being broad-based,

but this is actually a compensatory element that kicks in later in the disease.

And interesting thing is that the phenomenology of gate ataxia changes during disease progression.

So in the very early stages,

patients might only have an abnormal tandem gate performance and perhaps a slightly hesitant first step after return.

And what happens next is actually not the broad-based element, but variability.

Variability as the keyword and variability in step length and step width.

The patient starts to deviate from the straight line to both sides.

Some of them will have a relatively high gait speed.

And this is something interesting.

You And you can also play with the gait,

ask patients, if you see this,

to slow down a bit or perform the tandem gait a bit slower, perhaps.

And then later, you will see the broad-based gait kicking in and the gait slowing down.

And sometimes you see stiffening of the knees,

again, as a compensatory element.

So you see the dynamics of gait ataxia as disease progresses and it's intertwined with these changing compensatory efforts.

And in the next stage,

patients will need to use supportive devices,

otherwise they will fall because of their severe balance difficulties.

And I think, as you mentioned,

we have to rule out other neuroanatomical sources of Atexia,

sensory causes for which we will do the full sensory examination and see what happens through the gait upon eye closure.

You want to rule out the frontal type of Atexia or a more modern term,

higher level gait disorder.

in which you will expect disproportionate balance difficulties,

often also with cognitive changes.

And lastly, I think a vestibular origin in which patients next to having complaints like dizziness,

et cetera, will have gait deviation typically to one side consistently.

And then we will need to look for additional cerebellar signs in the rest of the exam.

And I think many of us as movement disorders experts put a lot of time

and effort into the examination of the eye movements,

and the cerebellar disease, you will expect,

for example, to find fixation instability,

square wave jerks, jerky pursuit,

case evoked or downbeat nystagmus, and hypermetric saccades.

You can perhaps hear cerebellar discharge via scanning speech,

and find upper limb ataxia in the form of dysmetria and intention tremor.

Bart, the topic of classification of Ataxia sometimes is not so clear,

especially for no expert.

You'll discuss a little bit more about the classification of Ataxia.

There are hundreds of conditions that can lead to Ataxia

and I think there have been many attempts to classify Ataxia from a practical or research perspective.

This turns out to be very complex, easily outdated as well.

I myself use a very simple framework that guides me through my thinking and practical workup.

So I separate three main groups of Atexias.

So we have acquired Atexias,

we have genetic Atexias, and we have non-genetic degenerative Atexias.

For example, the cerebellar type multiple system atrophy.

That said, I think for the genetic ataxias,

MDS study group on the genetic nomenclature movement disorders has done a very good job in listing the confirmed ataxia genes.

But still many of us still use the old terms,

for example, SCAR or SCA for the dominant ataxias.

I think that's what it is.

But again,

I want to refer to my very simple framework as a way to provide guidance in what we think

and do when confronted with an ataxia patient.

Mark, like you said, we have different forms of the taxa,

including acquired genetic and no genetic taxa.

I have two questions now.

What is the diagnostic roadmap you suggest for these different forms of the taxa?

And what would be the importance of complementary exams such as brain MRI,

GSF, and BetGun, all the classification and identification of different forms of detoxing?

Yes, Orlando, to start with your second part,

perhaps I think all the investigations should serve a purpose and in this scenario,

trying to reach a diagnosis for a patient and not serving classification purposes unless it's for a research effort.

In line with other movement disorders,

I think history is really key and elements of the history will guide our differential tremendously.

So things like onset age,

rate of progression, the family,

medical history, current drugs, et cetera, are of utmost importance.

In general, I think we need to keep in mind that acquired causes of etectia are the most common ones.

And what I use of these elements in the history most is perhaps the type of progression,

the rate of progression.

So if this is acute or subacute,

the cause will most likely be acquired.

And you will do the MRI.

You will rule out drugs,

metabolic causes, check for perineoplastic or other immune-mediated diseases, consider prion, et cetera.

The second interesting presentation progression worries is if the ataxia is purely episodic.

100

Because if this is the case,

101

then the number of differential diagnostic groups to consider is very limited because generally this will either be something autoimmune,

102

for example, anti-GAD or anti-Casper 2 antibodies,

103

or be genetic like SCAR-27B or Kekna-1 and others.

104

I think the most challenging category is the slowly progressive ataxia.

105

And there, if you have a family history,

106

this will be very helpful.

107

And then you can jump to your genetics, I guess, immediately.

108

But if not, you're left with a sporadic, slowly progressive ataxia.

109

And then you still have this large differential covering all the three groups we just discussed.

110

And I think in that scenario,

111

we will also start with repressing for the MRI scan,

112

ruling out acquired diseases and searching for clues pointing to a specific rare condition perhaps.

113

We will do some minimal blood tests to rule out acquired causes like anti-GAD and the vitamins,

114

etc. And then we will also do genetics in this sporadic, slowly progressive retexias.

115

And here we want to make sure that we have access to testing the genes with repeat expansions as the mutational mechanism.

116

These are the most common ones.

117

And I think most labs are still doing this as separate tests.

118

So what you request, make sure that the lab tests for these repeat expansions.

119

This will change if we all have access to long read sequencing in the future.

120

If repeats are negative, you can also look for the other non-repeat ataxia genes if you have access to next-generation sequencing platforms.

121

And if the genes are negative,

122

I think the next step is to consider whether your patient

123

with the slowly progressive sporadic ataxia could perhaps have a cerebellar subtype of MSA.

124

And I think the 2022 MDS criteria are very helpful to have a look at

125

because I think these criteria would guide you through the workup

126

to see whether your patient actually has clinically established a probable MSA.

127

And if not, then your final interim diagnosis will be the sporadic adult onset detection

128

or the over-term idiopathic late onset detection, ILOCA.

129

And I think you have to follow up those patients.

130

Follow up because new genes will come out and it might be useful to retest your patients.

131

And I think the relatively recent discovery of SCAR-27B is a good example

132

because this now explains many of the patients that we previously labeled as being ILoka.

133

And I think you should be aware that patients can still convert to MSAC.

134

There's also a reason to keep them in follow-up.

135

Okay.

136

Bart, now I have one of the most difficult tests for you.

137

In the new era of technology and AI,

138

with genetic testing become more available,

139

Do you think that clinical skills will have a place in the evaluation of patients with a doctor?

140

That's indeed a difficult question,

141

Orlando, and my answer is clear.

142

This is a yes.

143

I know there are people who promote a genotype first strategy.

144

I'm myself not an advocate of that.

145

I strongly believe that you need a good,

146

robust and certain phenotype to enter genetics.

147

And the reason is that genetic testing often leads also to a variant of unknown significance.

148

And if you have an uncertain phenotype to begin with and a vast from your genetics,

149

then you are in trouble.

150

So I think good phenotype to begin with is key.

151

And the other aspect I want to mention is what we have been calling reverse phenotyping.

152

So if you get a genetic test result back,

153

you want to be sure that this can be matched to the patient's phenotype clinically and or radiologically.

154

And for this, you really need to have done the full examination

155

because many of the ataxia conditions will present with relevant non-ataxia features.

156

Think about ataxia plus neuropathy or spasticity or dystonia.

157

And these non-ataxia features can actually be quite discriminating and help you in this reverse phenotyping process.

158

On the other hand, I think machine learning AI will be our new right hand in our work,

159

clinical work and scientific work.

160

And as an example, we are seeing machine learning-based analyses of gait and speech disturbances that can objectively quantify,

161

track disease status and disease progression.

162

And this we can deploy in clinical trials that are emerging.

163

So there's certainly a place for AI machine learning in our etexia approach,

164

in the clinics, in the research setting,

165

what it will be next to and together with doctors and scientists.

166

Okay, particularly I'm very happy with your answer.

167

We are nearing the end of our interview.

168

And now, what are the take-home methods to our listeners?

169

The take-home message for me is that keep the clinical skills,

170

do the full neurological examination in the patient

171

and invest particularly in trying to pin down the cerebellar origin of the movement disorder you were confronted with.

172

Play with the gait.

173

Be mindful that gait detection is a dynamic feature.

174

with the compensatory elements, for example,

175

in modifying the speed of the gate task you are asking the patient to do.

176

And what a nice thing is,

177

Alando, I'm still learning myself as well.

178

So I've been tweaking my neurological history,

179

taking an examination along the ride.

180

And as an example, a couple of years ago,

181

the gene for the Kahn-Vas syndrome,

182

so cerebellar dexia, neuropathy and vestibular earflexia syndrome was discovered expansions in rc1

183

and based on those phenotypic descriptions i've been adding a question on chronic cough to my history

184

and adding i had impulse tests to my examination

185

so second message is don't stop learning perfect thank you bart for sharing these insights

186

and thank you to our listeners for joining us.

187

We hope this episode helped you approach a tax patient with greater confidence as a procedure.

188

The views

189

and opinions expressed by the participants in this podcast do not necessarily reflect those of the International Parkinson

190

and Movement Disorders Society or their affiliated journals,

191

Movement Disorders and Movement Disorders Clinical Practice.

192

Any disclosures of the participants can be found within the episode description located on the MDS website.

TRENDING

쉐도잉이란? 영어 실력을 빠르게 키우는 과학적 방법

쉐도잉(Shadowing)은 원래 전문 통역사 훈련을 위해 개발된 언어 학습 기법으로, 다언어 학자인 Dr. Alexander Arguelles에 의해 대중화된 방법입니다. 핵심 원리는 간단하지만 매우 강력합니다: 원어민의 영어를 들으면서 1~2초의 짧은 지연으로 즉시 소리 내어 따라 말하는 것——마치 '그림자(shadow)'처럼 화자를 따라가는 것입니다. 문법 공부나 수동적인 청취와 달리, 쉐도잉은 뇌와 입 근육이 동시에 실시간으로 영어를 처리하고 재현하도록 훈련합니다. 연구에 따르면 이 방법은 발음 정확도, 억양, 리듬, 연음, 청취력, 말하기 유창성을 크게 향상시킵니다. IELTS 스피킹 준비와 자연스러운 영어 소통을 원하는 분들에게 특히 효과적입니다.

☕ 커피 한 잔 사주기

ShadowingEnglish는 여러분의 지원 덕분에 100% 무료로 운영됩니다. 서버 및 AI 유지 비용이 많이 듭니다. 여러분의 커피 한 잔이 큰 힘이 됩니다! ��

PayPal로 기부하기

ShadowingEnglish.com – 영어 쉐도잉 연습

쉐도잉(Shadowing)으로 원어민처럼 영어를 말하세요. YouTube 영상을 한 문장씩 듣고 따라 말하며, 진짜 발음과 유창성을 키우세요. IELTS 학습자들이 선택한 방법.

쉐도잉 연습: Ataxia Series: The ataxia exam - Phenomenology, classification, and a practical diagnostic roadmap - YouTube로 영어 말하기 배우기

인기 동영상

맥락 및 배경

일상적인 의사소통을 위한 다섯 가지 주요 구문

단계별 쉐도우잉 가이드

쉐도잉이란? 영어 실력을 빠르게 키우는 과학적 방법

쉐도잉 연습: Ataxia Series: The ataxia exam - Phenomenology, classification, and a practical diagnostic roadmap - YouTube로 영어 말하기 배우기

앱 다운로드

맥락 및 배경

일상적인 의사소통을 위한 다섯 가지 주요 구문

단계별 쉐도우잉 가이드

쉐도잉이란? 영어 실력을 빠르게 키우는 과학적 방법