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Myotonic Dystrophy Diagnosis and Treatment explained 

Neurophysiology
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This second part of two videos explains the clinical aspects of Myotonic Dystrophy, how it is diagnosed and current treatments.
#Myotonic #Dystrophy #Anaesthesia Alert Card (downloadable from Muscular Dystrophy UK via this link:
www.musculardystrophyuk.org/ap...
A further card can be downloaded from the Muscular Dystrophy Support Group UK via this link:
www.myotonicdystrophysupportgr...
The Myotonic Dystrophy Foundation anaesthesia guidelines that can be handed to a medical team can be found via this links:
www.myotonic.org/mdf-releases-...

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7 июн 2024

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Комментарии : 29   
@dralexjimenez
@dralexjimenez 6 лет назад
Well done.. Thank you. This video was very helpful in understanding the future treatments soon available. Thank you.
@paulandersbullecer3152
@paulandersbullecer3152 3 года назад
Thank you for such a good brief presentation. I wanted to study medicine but I will undertake a different path in life which I like as well. This presentation helps me fulfill my dream.
@danielavaldezluis7892
@danielavaldezluis7892 4 года назад
Hi! I'm about to graduate from biomedical engineering and in order for me to graduate I need to do my thesis, I'm going to develop a telecommunications system with an SVM classfier so I can upload a database with a x number of emg readings, I'm focusing on duchenne's and becker's muscular dystrophies, I havent found a website nor an article that states what's the normal frequency, amplitude, time, etc in which children are considered to have any of these dystrophies and I was wondering if you could help me out with that, maybe you could recommend me an article, some literature I should be looking into, I don't know, something. I'd highly appreciate it and thank you so much for uploading these videos!
@bhaskaraopeteti7213
@bhaskaraopeteti7213 3 года назад
Sir I can't understand properly my grandson is suffering with myotonia congenia right from his birth now he was 21. Please say me is there any proper treatment for myotonia which can cure either fully or partially 🙏🙏🙏
@franciscocarlos7993
@franciscocarlos7993 2 месяца назад
Hello! I learned about a new drug from ARTHEx Biotech that can greatly help people who have myotonic dystrophy. Do you have any predictions as to when this new drug will be available for purchase?
@DrSimonFreilich
@DrSimonFreilich 2 месяца назад
Hi, I don't know and can't guess but wish the company and all involved in every success. Bw Simon
@katmel3633
@katmel3633 4 года назад
Thank you Dr. Freilich. My nephew was born with DM1 . 100 days in intensive care with respiratory problems and unable to feed with a bottle. Now he is breathing and bottle feeding and goes better. My question is , from your knowledge, willhe deteriorate ? Any prognosis in such early onset case?
@DrSimonFreilich
@DrSimonFreilich 4 года назад
Hi Kat - I'm sorry to hear this and it must be very difficult for your nephew, and entire family. This link will explain more about this condition and what the family should be looking out for, in terms of potential problems and services, going forward. www.myotonic.org/sites/default/files/pages/program/MDF_2018_CareConsiderationsChildhoodDM1.pdf bw Simon
@katmel3633
@katmel3633 2 года назад
@LAROSE martin thank you for your interest. He is growing He is doing physiotherapy twice a week for motor skills. He stands by his own, and walks if you take him from both hands for a walk. He doesn't talk yet. So far, he has good progression.
@hansgonzales5556
@hansgonzales5556 6 лет назад
Hello Dr. Simon Freilich, I was diagnosed with myotonic dystrophy type 1 when I was living in London. I currently live in my country where very little is known about my illness, Soon I will be operated on for cataracts. I have asked the neurologist why literature mentions the word toxicity in muscular dystrophies and he told me that this happens when you are intoxicated with some chemical; but I think that is not the answer. Could you help me with that please? I am currently taking phenytoin 3 times a day. I think if dystrophy is synonymous with deficiency and your body is intoxicated. What would happen if you detoxify your body and give it nutrients (vitamins, proteins, etc). Please help me. Thank you so much.
@DrSimonFreilich
@DrSimonFreilich 6 лет назад
Hans Gonzales, Hi, MD is a genetic issue. It is important to keep your general and muscle health as optimal as possible and to avoid known muscle toxic medications. Bw Simon
@user-my5fk9mw5l
@user-my5fk9mw5l Год назад
How is your health after 4 years?
@tamerelkhatib
@tamerelkhatib 2 года назад
Hi Dr. I have DM. I also have 3 children. My question is what is the expected possibilities that my children or any of 5them would have MD?
@DrSimonFreilich
@DrSimonFreilich 2 года назад
Hi, unfortunately it's quite high because it's autosomal dominant which translates to 50% chance for each child. As such it would be important for them to get tested or at least have a discussion around it. Bw Simon
@vc8028
@vc8028 3 года назад
Shalom DR my son has Mayatonic distrophy he is 2 and he delaying in eating and and talking is anything I can do?
@DrSimonFreilich
@DrSimonFreilich 3 года назад
Hi, I'm sorry to hear of this. The childhood myotonic dystrophies are a very complex field and advice regarding care/treatment needs to come from your local specialist team. Bw though, Simon
@vc8028
@vc8028 3 года назад
@@DrSimonFreilich thank you so much
@awsomeyesim8959
@awsomeyesim8959 4 месяца назад
Im suffering from myotonic dystrophy doctor 💊 eption for relaxation.. but i want to cure completely... Im not science student.. i live in village from india.. if any specialist reading coment please replay me 😣😣
@monikakumari9507
@monikakumari9507 7 лет назад
mytonia diease is cure by medicine ??? is it cureable???
@DrSimonFreilich
@DrSimonFreilich 7 лет назад
Monika Kumari Hi Monika, if you watch the video in full, you'll have a detailed answer to this very important question. Unfortunately, as it is a genetic illness there are currently no cures that can reverse it, however there are treatments being developed. At present treatments are primarily aimed at symptom management and managing complications. Very best wishes, Simon
@vegnonvegvillagefood
@vegnonvegvillagefood 6 лет назад
Dr Simon Freilich i am also pation of myopathy. Cont with me +919417789631
@Hasan-jo3lb
@Hasan-jo3lb 4 года назад
@@DrSimonFreilich I also patient of this disease and I feel negative all time. I need help. What's app 7870758891 Mo. 8789800400
@lucylu5118
@lucylu5118 3 года назад
@@Hasan-jo3lb hope you are ok, it's awful when you feel alone with your health problems.. take care 🙂
@Hasan-jo3lb
@Hasan-jo3lb 3 года назад
@@lucylu5118 it is possible to treat it ?
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