Spinocerebellar ataxia - causes, symptoms, diagnosis, treatment, pathology

What is spinocerebellar ataxia? Spinocerebellar ataxia or SCA refers to a group of rare genetically inherited conditions, caused by mutations in several types of SCA genes.
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Our Vision: Everyone who cares for someone will learn by Osmosis.
Our Mission: To empower the world’s clinicians and caregivers with the best learning experience possible. Learn more here: osms.it/mission
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[@NiraiRaipi]

1 litre of tears.. An inspiring Japanese dorama about the story of a young girl's struggle with this disease..

[@areejps]

i am here because of this drama too

[@inosuke3613]

@@areejps same

[@fetchan28]

@@areejps same :" that dorama was so good :"

[@jenecacraco3477]

same here..i want to understand it more

[@olympiath3768]

Which is that story? Title please?

[@feliciaherrera1211]

Treatment also includes occupational therapy

[@gardenlifelove9815]

There are a couple of famous KZbin physical therapists that are well loved that one of them has recently been diagnosed with this condition. His speech is very affe Ted bit he does on and recently came on to explain this disease.

[@LaneCodeRedCarnivore]

Bob !

[@raheebr2438]

Great explanation, as always!👍

[@NoobAllert]

Guys seriosly, ive loved Osmosis since the beggining of my med school, you guys help me so much on understanding things in a simpler way

[@osmosis]

Glad to be part of your medical studies! 🥰❤️🙏🏼

[@JHuiYi16]

Psychiatric/psychology therapy is also very important as these patients tend to fall into depression. My dad had it and gave up on life :(

[@osmosis]

Thanks for sharing and we're sorry to know about your dad. 🙏🏼

[@Sinfulscents]

I’m very sorry!

[@solidfuel0]

But why not give up

[@JHuiYi16]

@@solidfuel0 you are enough, you are worthy, just by simply existing.

[@solidfuel0]

@@JHuiYi16 worthy to who? All people are selfish

[@medicos4health39]

great!! you have inspired me to make videos on youtube.

[@NAMAHE]

this is such a horrible dicease. i saw my father (not my real father, but the father of my half sister, and the father i grew up with) decline and stuggle with it until he died last year, 65 years old. he was in a wheel chair, blind and had no short term memory for the last 10 years. i saw an outgoing social entreprenour deteriorate little by little, becoming a shell of the person he used to be. he fought so hard until the very end. we don't know if my little sister has it, and i don't think she wants to take a test to find out. i don't believe in god, but i pray that there will be a cure for this soon. i wouldn't wish this on my worst enemy.

[@cindylou5673]

Do a lot of praying because that's what it takes. Believe in yourself if nothing else and continue to pray...

[@eishakhalid345]

Same thing with my mom :( she passed away

[@NAMAHE]

@@eishakhalid345 i'm so sorry.. may she rest in peace.

[@aman7454]

@@eishakhalid345 RIP

[@amberidk5096]

My mom has it too … sca 17 and There is 50% chance i have it too … on one side I want to know if I have it too but on the other side I am also afraid to know what the test results may be ( i am now 15 and my mom is 45 btw… the symptoms begun 14 years ago)

[@shraddhakanade951]

Thank you so much ✨

[@dingdong436.]

Thank you osmosis a lot!❤❤❤

[@osmosis]

Most welcome! 🙏🏼

[@thefenerbahcesk4156]

I wonder if protein aggregation due to polyglutamine expansion is a possible mechanism for SCA, as with Huntington's Disease.

[@worldknowledgem.b3265]

Even every video is mind blowing. I like yr video & as yr subscrber.

[@manuelperezruizdiaz9418]

Outstanding explanation

[@arturo910ruiz]

Good info

[@sindhu7754]

Thank you so 🙏much outstanding explaination ✨before my exam

[@osmosis]

We hope your exam went well, Sindhu! 😊

[@Milamber7Pug]

Neuroimaging isn't a good way to diagnose. A significant number of people with well progressed symptoms can show no visible cerebellar atrophy.

[@jimmcconnell7328]

If neuronimaging isn’t useful in diagnosis,what is? I have ET with balance issues seven years after diagnosis.

[@janbarriault4494]

the history should make the diagnosis,, neuroimaging, investigations, then will confirm it.

[@HaiderAli-yk9ve]

Nice

[@AmberTopps]

We just found out my son has this disease and he got it from his fathers side and they said nothing while we were dating,my son also has 2 kids and we hope they dont have it.I also have a daughter and she just had a son and im hoping they are well

[@shuvoislam8104]

Understand the problem with walking,co-ordination, eye movement due to cerebellum dysfunction but why is there speech problem??

[@cindylou5673]

I think it has something to do with the vocal chords. I have not been diagnosed yet but have all the symptoms and I am starting to slur off and on. I have weird things about my throat...

[@Sarkar-148]

Hello sir I am from India I have a patient her age about 29 years as like same problem with her low balance coordination shaking and pain the back side how to treat the cases ?? Plz help her.the doctor says not cure about this disease

[@PtolemyXVII]

This is very interesting...especially since glutamine leads to GABA production, and inhibitory GABA transmission also leads to diseases like Parkinson's via ataxia and neurodegeneration and also epilepsy. So I'm wondering, because vitamin e deficient diets in animal studies have been shown to cause ataxia and neurodegeneration, could a deficiency in vitamin e lead to the expression of CAG repeats that could cause this condition and other related conditions? (Re: vitamin e changes glutamate and GABA inducing enzymes)

[@abhishekvsmalyala]

This whole theory loses it's credibility as soon as you realize that Glutamate is ALWAYS a stimulatory neurotransmitter, unlike GABA.

[@PtolemyXVII]

@@abhishekvsmalyala glutamate but not glutamine. glutamate is converted into glutamine by glutamine synthetase.

[@PtolemyXVII]

@@abhishekvsmalyala I don't think that's accurate. Vitamin e would regulate glutamate which would alter the levels of glutamine in the cell - hence inhibiting GABA production.. That's what I was proposing in my original post since this pathway has already been established, but hasn't been studied specifically for neurological diseases like Parkinson's or SCA.

[@badrinaqvi8094]

o

[@Mazeisaspace]

what abour aquired ataxia?

[@jimmyosman]

the confusing things is,,i have this condition,,but just for my speech disorder,,my hand,eye,and walk is normal,,but i'm afraid that is to come

[@Argnja]

робите аналіз на ген-сцатаксії?Робіть.

[@shanshancc]

Hello, my friend has SCA type 3. This condition passed on to her from her mother who is now bed ridden patient . My friend's conditions currently are that she often cannot walk straight and on some bad days, she cannot even get up. Now she is 15-week pregnant and worried if this condition will pass on to here baby? Is there any way to test during pregnancy if her baby also has this condition? Thank you so much in advance for you answer.

[@markmartin2413]

Thanks to Dr nafuar he cured me few months ago

[@faisaltasiu5421]

There’s is a herbal cure for ataxia thanks to dr nafuar on KZbin now I’m perfectly cured and free from ataxia thanks dr nafuar

[@Rajveergillcom]

Hereditary testing is available for pregnant mothers at 2nd month of pregnancy

[@IAMGiftbearer]

I'm assuming this is the human version this refers to, as an article about the dog version says it's autosomal recessive rather than autosomal dominant.

[@vananhtran4994]

It is different, if friedreich’s ataxia or ataxia telangiectasia they are recessive

[@anandk3836]

my brother has same problem (spainocerebullum degeneation) if any treatment plzz inform sir

[@gloriauzuazomaroadakporia1451]

Search for Dr nafuar on KZbin he has herbal cure for ataxia

[@gloriauzuazomaroadakporia1451]

Search for Dr nafuar on KZbin he has herbal cure for ataxia

[@roufbanday1168]

Injections botulinum

[@nagulavenkateshwarlu6775]

My son is 3 years not walking till suffering with spino celebral ataxia 2

[@nagulavenkateshwarlu6775]

Is there any treatment for spino celebral ataxia 2

[@controluday6414]

Is it similar to Huntington's Disease/chorea ?

[@vananhtran4994]

No, ataxia caused bt cerebellum is being damage or atrophy. While hungtington’s not

[@scakardesler]

Merhabalar, sca hastaliginin farkındalığı yolunda bize destek olabilir misiniz

[@Anuanu-uc5bq]

0:20,3:02,4:15

[@026_mahesh3]

Is spino cerebellar degeneration, spino cerebellar ataxia are same????????

[@laululla]

Not always. You can have cerebellar ataxia also from tumor or infarct, not only trough degeneration.

[@sharmamathi4103]

I have sca 1 table rate so high so please any one help any foundation is there please tell

[@markmartin2413]

Search for Dr nafuar on KZbin

[@faisaltasiu5421]

Thanks to dr nafuar on KZbin for permanently curing me using his herbal medicine now I’m perfectly fine and ataxia free

[@fashionmixtapes]

IVIG

[@omidkamjoo7939]

سلام درمانش تو آریکا آمده؟

[@j-hopesstrawberriesfanfics992]

I hace SCA type 27, I cant even write a word sometimes and say a word

[@markmartin2413]

Thanks to Dr nafuar he cured me from ataxia

[@faisaltasiu5421]

Special thanks to dr nafuar for permanently curing me of my ataxia using his herbal medicine now I’m feeling better and ataxia free thanks dr nafuar

[@soldierofgod349]

I’ve got this It’s absolutely horrible

[@sv4tech792]

@@annthompson3137 one of my family.5 person affected..One of them passed away before 1week No medicine in india

[@sv4tech792]

@@annthompson3137 sure.. Please share

[@sv4tech792]

@@annthompson3137 which country u r from?

[@sv4tech792]

@@annthompson3137 INDIA

[@sv4tech792]

Is there any medicine or like therapy treatment

[@NERVESMEDICINE616]

👍

[@fousadkanjippura447]

എനിക്കും ഈ പ്രോബ്ലം ഉണ്ട് Treatment പറയുമോ

[@ashikhp1675]

Bro

[@notyouraveragecentrist4536]

We should develop prenatal testing for that so we can prevent those things from being born