Ataxia telangiectasia - causes, symptoms, diagnosis, treatment, pathology

What is ataxia telangiectasia? It is an autosomal recessive disorder where a defective ATM gene causes an absence of the protein ATM, which is used to repair damage to cellular DNA.
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[@ananyarao4960]

Great deal of effort has been put into this as always , thanks Osmosis , it was very helpful !

[@osmosis]

Glad you enjoyed it, Ananya! 💕

[@queena7360]

شكرا لمجهودك بنستفيد جدا من المعلومات وطريقه الشرح ممتعه

[@ashleelarsen5002]

Fascinating, thanks Mr Osmosis!

[@osmosis]

Most welcome, Ashlee! ❤️

[@ayhan9956]

What can l do for atp1a2 gene hemiplegia migraine disease

[@letekk5347]

Thank you osmosis

[@osmosis]

Always welcome, Letek! 😊

[@Rasha.Ishtar]

Great video

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Thanks, Rasha! 😊

[@akhonaazile828]

Thank you

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You're welcome! 😊

[@DeIaynomore]

Number 1. DPT

[@ToConnect2000s]

So can this happen with someone with Lupus? The reason I ask is because lost all motor functions today, and was paralyzed from the neck down today for around 10 minutes. I couldn't move anything but my head then I was able to move like it was no big deal.. No matter how hard I tried I just couldn't move, but I could still feel the weight of my legs, and the cold from the table my arm was on. After I was able to move I got a headache and have had that headache ever since.

[@doelala6679]

Yeeeyy new video🙃♥️

[@osmosis]

Hope you enjoyed it! ❤️

[@niknajwaafifah6120]

Check out their videos! Easy to understand !!

[@osmosis]

Thanks, Nik! 🙌🏼

[@user-wg4px5fo9r]

Super woow🎉

[@aaronscarborough6004]

Can ATM be farmed and then theoretically be used for cancer patients? Or maybe a way to increase someone’s ATM production?

[@anantprakash6499]

It has to be produced inside the cells, if we just give it orally itll be digested, if we give it by blood itll stay there and not be allowed into the cells. Gene therapy to replace the defective gene and increase atm production is theoretically possible and it has been done for some other diseases but it has to be done in the single celled zygote stage, not later. Even if we found some method to increase atm production in all cells, there are a 1000 other genes that play a role in causing cancers like TP53, RB, ALK, MET, ROS, BRAF, RET, etc which are much more common than ATM mutation and play bigger roles in cancer developement and itll only take the failure of this system in one cell to create cancer so it will be of no use. that is why there are no vaccines for cancers (cervical cancer is an exception). Even in patients which have cancer due to ATM mutation, the mutation itself isnt the real cause of the cancer, it has just allowed the actual harmful mutations to occur without fixing, so even if we restore atm function, what damage has already been done wont be fixed and hence no cure. Its like watering a plant after it has died.

[@aaronscarborough6004]

@@anantprakash6499 Thank you for the detailed response. It is much appreciated.

[@tufanylmazer7052]

Which program do you use to create videos?

[@osmosis]

Hi! Thanks for asking! Here’s how Osmosis videos are made: www.osmosis.org/blog/2020/11/27/how-osmosis-videos-are-made#

[@dailydoseofmedicinee]

Great

[@osmosis]

Welcome! 💕

[@AestheticMEDICO]

sweet

[@mrrishiraj88]

👍

[@robertmiller3810]

I’ll be damned. I just had my DNA sequenced in March 2023. I may have this condition thanks to my parents messed up chromosomes. Every symptom you mentioned, I have. At present, I’m trying to set up my care team because I had no clue I even had this disorder. What type of specialist do you recommend I get a referral too? I’m 80 with many genetic defects, causing multiple illnesses and conditions such as MGUS and possibly Multiple Sclerosis. Thank you for posting this, you definitely have helped one very sick human being.

[@fatimanaqvi2378]

Hope you get better soon ❤

[@alimaiftikhar]

can i get help from u ? i want to know about the disease ?

[@robertmiller3810]

@@alimaiftikhar You would be better off looking the meaning of “Ataxia Telangiectasia” on your phone or computer. It is a rare condition and is a killer. If my body wasn’t a freak of nature, I would have been dead many years ago from it. As is, my DNA Sequencing shows I multiple genetic mutations that are all trying to kill me. My body is riddled with misery including Non Hodgkin’s Lymphoma which is a blood cancer. After I checked out why Ataxia is so bad, I have almost all the symptoms of it and I can empathize with anyone who has it. I hope you don’t have it, my life has been a nightmare for 80 years and the pain is unbearable, as I contemplated killing myself to stop it. But here I am, yet, talking to you, trying to help others. So you would get better information on the internet about Ataxia that I can give you.

[@skhumbuzodladla1457]

Great deal of effort has been put into this as always , thanks Osmosis , it was very helpful !

[@osmosis]

Always our pleasure, Skhumbuzo! 🥰

[@Miss_Tae]

Thank you

[@osmosis]

You're welcome, Agnella! 💕