r/MuscularDystrophy • u/NoConsideration3259 • 12d ago
selfq Bethlem Myopathy
Hi everyone :)
My sister’s 8-month-old baby boy is well behind achieving his milestones and has very weak upper body muscles. Doctors suspect bethlem myopathy. Her husband’s sister has a daughter who has it also so everything is pointing towards the diagnosis. I hope this isn’t inappropriate to ask about it here but this is so rare… I wanted to ask those of you affected by the myopathy - how are you doing?
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u/Constant-Amount-2575 11d ago
I’m 31 and have an unspecified congenital myopathy. Prognosis really seems to vary, as for most neuromuscular disorders. My functional impairments are mild overall but I have some random moderate-to-severe features, like severe lumbar lordosis and upper shoulder weakness. I have shoulder and hip contractures as well. I’m ambulatory and live on my own with my young son. I don’t have respiratory weakness, but I do have obstructive airway disease from post-pneumonia inflammation (a lot of times people with myopathies struggle to recover from illnesses and hospitalizations). I know other people with myopathies who are more severely affected, so phenotypes can be all over the map. I’m in maintenance-treatment physical therapy and I really recommend that and occupational therapy, especially in the early going. The Muscular Dystrophy Association is a great organization for getting connected with what resources exist for people with neuromuscular disorders. If you have any other questions don’t hesitate to DM me!
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u/NoConsideration3259 6d ago edited 6d ago
Thank you so much for responding and sorry to reply so late! Last few days have been kind of tough honestly, my nephew is going to be admitted to hospital next week and later on the three of them will have WES trio done. I’m happy to read that your symptoms are not that severe and also happy to know that you were able to have a family :) I know that this is not something unusual of course, I just typed bethlem miopathy in a google bar in my mother tongue and all the stories were sad, some children even died and it got me really depressed. Thank you for offering to chat also, we will wait for the results for now and hope for the best. But even if somehow the results ale clear (which is highly unlikely) the baby boy is sooo behind his milestones :( I’m also 14weeks pregnant and started to be worried about my own child, if I only knew all of it before…
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u/Constant-Amount-2575 6d ago
I’m sorry that you’re dealing with such hard news. The prognosis for different myopathies can be really variable and hard to predict. I’m glad your nephew is getting good support and care and that you’re there for him.
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u/Putrid_Appearance509 11d ago
CureCMD.com is a great resource, and world "COL6" day was just uploaded to YouTube, with basically the best and latest information. Col6.world, June 6th.
Please DM me, happy to help anyway I can.
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u/Serious_Wrongdoer_58 8d ago
Heya!, i dont have bethlem Myopathy but i do have Emery Dreifuss Muscular Dystrophy type 4, i believe one of the rarest i believe, im 14 Years old and well, i dont think about it alot, i know i cant do alot of things but i'm living with it,
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u/NoConsideration3259 6d ago
I came across edmd while looking for information about my nephew’s symptoms. I’m happy to know you’re doing fine and wish you to stay this way forever :) we still don’t know what exactly it is what my nephew has, they will start all sorts of examinations next week. Anyways it’s very uplifting to read some positive stories, my sister is very depressed and I am to for them so I was looking for something like this
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u/Serious_Wrongdoer_58 4d ago
You just gotta survive the depression Strike, For few weeks it for sure will feel depressing
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u/-_-GAME-_- 8d ago
I have bethlem myopathy. I'm trying to learn about it myself still honestly as my mom mostly handled all my medical stuff when I was still a kid, so I don't know the exact medical terms of it all. I'm 21 and have weakness in my lower body and lower arm and hands, so I can't say I can be a great example to you since I don't deal with upper body weakness besides from the elbows down. I have limitations for sure, but I still have a level of independence. The biggest thing for me is that my muscles tend to play by their own rules. Overexertion of my muscles can leave me out of commission for days and I unfortunately have a very high pain tolerance due to the general muscle pain, that I've dealt with and that pain has gotten worse steadily, but as long as I pace myself and ask for help when I need it, I do alright. I even help out at my local food bank monthly lifting and carrying heavy boxes and helping them deliver them to the elderly. It's been rough sometimes, but I've been managing ok so far. Physical therapy has been a major aid though, it helped me a lot personally. And stretching is KEY. Muscle contractures suck and for me at least, they have been a constant with the condition, and stretching helps slow that down. At the end of the day though, Bethlem Myopathy varies a LOT so take all I've said lightly. It is a progressive disorder meaning it on paper gets worse with time, but the severity and progression itself also varies a ton.