Myotonic dystrophy, Causes, Signs and Symptoms, Diagnosis and Treatment.
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- Опубликовано: 1 июн 2024
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Chapters
0:00 Introduction
1:13 Causes of Myotonic dystrophy
2:37 Symptoms of Myotonic dystrophy
3:42 Diagnosis of Myotonic dystrophy
4:14 Treatment of Myotonic dystrophy
Myotonic dystrophy is a type of muscular dystrophy, a group of long-term genetic disorders that impair muscle function.[1] Symptoms include gradually worsening muscle loss and weakness.[1] Muscles often contract and are unable to relax.[1] Other symptoms may include cataracts, intellectual disability and heart conduction problems.[1][2] In men, there may be early balding and an inability to have children.[1]
Myotonic dystrophy is typically inherited from a person's parents, following an autosomal dominant inheritance pattern.[1] There are two main types: type 1 (DM1), due to mutations in the DMPK gene, and type 2 (DM2), due to mutations in the CNBP gene.[1] The disorder generally worsens in each generation.[1] A type of DM1 may be apparent at birth.[1] DM2 is generally milder.[1] Diagnosis is confirmed by genetic testing.[2]
There is no cure.[3] Treatments may include braces or wheelchairs, pacemakers and non-invasive positive pressure ventilation.[2] The medications mexiletine or carbamazepine are occasionally helpful.[2] Pain, if it occurs, may be treated with tricyclic antidepressants and nonsteroidal anti-inflammatory drugs (NSAIDs).[2]
Myotonic dystrophy affects more than 1 in 8,000 people worldwide.[1] While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s.[1] It is the most common form of muscular dystrophy that begins in adulthood.[1] It was first described in 1909, with the underlying cause of type 1 determined in 1992.[2]
I love this video. It explains clearly and simple what DM means. Great job!
Glad it was helpful!
Sooooooo fantastic...!
Thank you so much.
Vai apni ki Bangladeshi
When I was diagnosed with this at age 16 I thought my life was over. Sadly I have a heart defect, had cataracts, Type 2 diabetes can also be caused by Myotonic Dystrophy. I've also lost all of the muscle in my left arm. I'm 38 now and there is a real possibility I won't make it to sixty
@LAROSE martin A hell of a lot I'm on heart tablets, blood thinners, water tablets, cholesterol, acid tablets diabetic tablets and some others
@LAROSE martin yeah I take multivitamins too
i know there’s a chance you won’t see this- but i am 16 and just got diagnosed as well. do you have any idea what your repeat number is?
@@emmajane0565 I'm not sure what you mean. But if your asking me what string of Dystrophy I have it string 2
Have you tried to test yourself for any vitamin deficiencies??
This is accurate. I write and illustrate kid lit for a living so I can apply it to my characters.
What us the treatement
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?
Electromyography is not a "laboratory test".
got 50% chance i got type 2. will taking steroids make it worse if i got the desease?
It won't make it any better. This disease is a genetic disorder the steroids won't fix the abnormality in the chromosomes
Make a video about Mental Retardtion 🙏 MR pls the will be
7.27
So if you had a parent with Myotonic Distrophy, but you don't have it....can your kids still get it?
No bz it autosomal dominant.
But you should 1st DNA test to confirm that you don't have it.
Seems like i also have to do it.
Now time to go to doctor
Possibly
If you’ve had the genetic test and you don’t have the gene, there is no abnoabnormal gene to pass along to your kids. Don’t go by how you feel, have the genetic test done
What makes the muscles waste? I understand the condition is genetic and caused by introns etc. But what exactly do the genes do (or not do) that makes the muscles waste?
E.g. in EDS half the genes don't code right for collagen
You can supplement with collagen and promote healthy fat absorption as well everything is diet influenced but to answer that it’s a genetic disorder
I had a muscle biopsy done around 10 years ago and it showed that I lacked dysferlin. Dysferlin is a protein that repairs the muscles.
Please find a cure
Genetic diseases don't have a cure. Some can be cured if detected in the embryonic stage.
Please tell me that you all laughed at the dude having heart complications especially when the girl was freaking out about it lmaoo props to the animator for how funny that was 😂😂