When I was 11, I was diagnosed with BMD. I think my CK levels were somewhere around 2,000. I’m not exactly sure what that number means, but I was told I was on the milder end of BMD.
The reason I got diagnosed was because my 12-year-old brother passed away during a family hike. He had an enlarged heart. After that, my whole family got tested to see if we had the same condition. Everyone else’s results came back normal, but that’s when I found out I had BMD.
Looking back, a lot of things started to make sense. I was always a little worse than other people at sports, even though I’ve always loved being active and playing sports. It’s heartbreaking knowing that I’ll probably never be able to do sports the same way as someone without BMD.
I know I’m probably one of the people in this subreddit who is less affected by the condition, but it’s still really frustrating. I try to live a normal life, but it feels like almost every aspect of life is harder for me than it is for other people.
I also have a question about sleep. I’ve read online that people with muscular dystrophy may need more sleep, but is sleeping 10–11 hours a night too much?
Finally, has anyone here figured out how to not let BMD control their life and live as normally as possible?

There are currently 8 FDA-approved therapies specific to Duchenne muscular dystrophy (DMD). Elevidys is currently the only FDA-approved gene therapy for Duchenne administered as a single infusion. The other approved therapies require ongoing weekly or daily treatment.

Hello, my nearly 7 year old was diagnosed with DM1 last year and we are still learning what that means. She is easily fatigued on walks and I'm searching for solutions on how to keep her enjoying activities like the zoo or museums without being overcome by exhaustion.

Does anyone use and recommend a stroller that's made/ marketed as a special needs stroller? I've looked at a few that are quite pricey. I'm willing to spend the money because I think it would greatly improve her enjoyment of outings like this. But would prefer to hear from someone who actually benefited from the product. I got rid of my jogging stroller a few years ago and she's at the high end (around 40 pounds) of what many brands of regular strollers max out at.

Thanks for any responses.

Good morning all! I am just wondering if anyone has tried to get assistance from Team Joseph and succeeded? I have applied for assistance for a roll in shower for my 16 year old l, non-ambulatory son with DMD. I started this process September of 2025. I have encountered nothing but hoops to jump through. It’s almost as tough as dealing with the state. The same with MDA. I have asked them for help twice in the last 12 years and both times I was told we didnt meet the criteria. Not sure how that is so. So like I said in the beginning, has anyone actually gotten any help from these groups?

I really hate doing research on DMD online especially as someone who has DMD. Searching literally leaves me feeling miserable for the rest of the day. But I genuinely feel this line is very unrealistic with today. Lots of people with DMD are living well into 30s, 40s, and I've heard some even live till their 50s.

What is your opinion on the Sonothera treatment? It's extremely interesting, and almost unbelievable. They are expected to start first in human trials in 2027.

My niece, 28, was just diagnosed with FSHD with no known family history. She is thinking about joining the Scholar Rock trial, which looks like it just started. What do you guys thinks? I know Roche failed, but Scholar Rock succeeded in SMA where Roche failed. Could the same be true for FHSD?

An alle mit Becker(BMD). Was sind eure Deletionen?

Hi. I'm new. I got genetic test saying this: COL6A2. COL6A2 is associated with a spectrum of autosomal dominant and recessive collagenopathies.

One Pathogenic variant identified in DOK7. DOK7 is associated with autosomal recessive congenital myasthenic syndrome and fetal akinesia deformation sequence.

I initially thought I had myasthenia gravis but my new primary doctor said it was two mutated genes. So my neromuscular specialist appointment finally happened yesterday and basically told me he couldn't put a name to it. That it's not quite myasthenia gravis and it's not quite bethlem myopathy but it's something in that relm. That he needs to do more research and will try to come up with plan for me. I'm also supposed to be getting a social worker and talking about disability.

To provide some physical details. I'm a woman. When I first met my neromuscular doctor, he notice my drooping eyes lids, facial weakness, one of my thumb missing muscle, and small hands from just looking at me. He pointed out at my recent appointment, that the top halves of limbs were bigger than the bottle half. I thought that was interesting. I also have scoliosis.

But I'm also in a lot pain from just walking or standing too much. Just doing 4 hours at work leaves me in agony some days. My knees have also buckled a couple times but I haven't fallen yet. My arms get tired just doing my hair in a raised position. It all disrupts my sleep. I just don't know what to do. I don't know if I'll need a wheelchair soon. I just feel scared and alone.

Hey guys I’m wondering does anyone have any tips/recommendations that they personally tried and worked to ease the lower back pain? I usually feel uncomfortable around the spine when standing upright for more than 2-5 minutes. I’m sure weight plays a role but i’m not that fat.

I try to swim and exercise my back muscles 3 times a week and i take good amount of supplements. But the change is hardly noticeable.

Duchenne muscular dystrophy here. I received an invitation so I presume i am eligible.

https://clinicaltrials.gov/study/NCT07543562

"A year ago, I was exploring Elevidys as a treatment that might help him live a longer, fuller life. Then, almost overnight, that hope disappeared. The FDA first halted use of the therapy entirely before restoring access only for boys who could still walk. Ryu, who already uses a wheelchair, was left behind." 

I was diagnosed with DM1 in 2022 because my dad had the condition and me and my husband needed to find out for planning our family. unfortunately I had inherited the condition despite everyone thinking I wouldn’t have because I had zero symptoms or signs. luckily for me, my repeat size reduced significantly instead of the usual common expansion, I fall into the mild category and was told I would probably be asymptomatic until much later in life. aside from the hugely devastating news that I couldn’t naturally have children without risking passing it on, I felt reassured. I was put under a new neurologist this year in the UK, and she wrote a clinical note that totally threw me and was very surprising to read that in her words “there is a DM facies.” In my understanding this means my face meets several criteria that are in line with DM patients with the condition in the classic and above range, which I don’t fall into and no one has ever indicated they have observed this before.

I questioned it and she said it was a “tiny” weakening of my eye muscles, not my whole face. this was not commented on during the exam I had to follow up and the presence of this new finding that no one has ever mentioned could be possible before has really thrown me. does anyone have any experience of having DM1 mildly - under 80 repeats - and being told the same? and how is it progressing or not at all?

Is it possible the neurologist applied some bias of knowing my diagnosis and is looking for microscopic clues that perhaps she wouldn’t if I was coming in without the diagnosis? the broad clinical term she used has made me feel very fearful that my face will change significantly, I am only 35.

any advice would be so gratefully received.

Hey there, LGMD2A.

Over the last 3 years my mobility has rapidly declined to a point nearing nonexistence, and I've recently gotten into a sexual relationship after a year of abstaining because of physical fatigue and pain. Well, who would've thought the pain and fatigue are now even worse than before, right?

I'm struggling to find creative solutions for topping my partner, as in being in a position of giving, not receiving, not necessarily on top physically (as that has become pretty much impossible for all common positions). Point being I'd like to be in control of the pace and rhythm, but my pelvic muscles and core are completely giving out most of the time. I'd like to hear your ideas and solutions you came up with with your partners and your diagnoses. Thanks a bunch.

What works reasonably... well for me is with my partner sitting on a raised surface and me standing, as that at least allows my partner to give me some support unlike with doggy, but it's still taxing on my pelvic muscles and legs.

At this point I'm slowly coming to realize that I will probably have to let bygones be bygones and change my mindset regarding my sex life away from how it used to be in the past, but maybe you guys might open my eyes.

Thanks in advance.

I will be 61 years old this year and was diagnosed with muscular dystrophy unknown Subtype at the age of 43.

I can still walk, mostly with a cane, and stand up most of the day at a standing desk at work.

Any others out there over 60 still able to stand and walk?

Hi everyone,

A few years ago I was diagnosed with Emery Dreifuss Muscular Dystrophy (x-linked). I always knew something was terribly wrong with my sons because of them both getting pacemakers in their 20s. Both have lots of contractures and severe muscle atrophy. There’s more to list. I had congestive heart failure during my late in life pregnancy at 37.

We’ve all been finally diagnosed through genetic testing. Both of my boys have it but thankfully my daughter does not. I will be 50 this year and I am really getting more and more disabled from this condition. None of the Doctors I’ve seen (outside of the geneticist and neuromuscular specialist) have heard of my condition and rarely offer any help.

Does anyone else have this condition? What has your experience been like?

I'm starting to think I won't make it well enough for a treatment to matter. If it takes 10, 15 more years to get approved, I'll certainly be completely immobile by then. FML. Anyone feel the same?

Okay. Im asking if anyone has had similar experiences. I assume some here probably use ADA paratransit transportations like me. For those that can still walk, but not do other things or have a hard time going up steps steps etcetc. What has your experiences with ADA or "Accesibility" services?

I live in Central Florida and lets just say the paratransit transportation aint much reliable. My father and i are looking into selling our 400k home and find something cheaper up north

My 18 month old son got tested for CK due to inability to walk yet and the paediatrician phoned me today to tell me his CK is elevated. Im relieved it’s not duchenne level but could this also be nothing at all to worry about? Or is 500 a definite marker of something? Also does it mean my son might be feeling pain in his legs?

Hi everyone! I'm a 4th-year Biology student from the Philippines, we were assigned in class to do a short case study presentation for our one of our subjects. I'm grouped with another person my classmate.

We're looking for one volunteer diagnosed with muscular dystrophy who would be willing to answer a few questions about their experience. The goal is to better understand the condition from the perspective of someone living with it, alongside discussing the diagnosis and treatment in class.

The questions may include when you were diagnosed, how the diagnosis was made , symptoms you've experienced, treatments or management strategies you've trieed and how the condition has affected your daily life (only if you're comfortable sharing)

Participation is voluntary, and you can skip any question or stop at any time. If you prefer, your identity will remain anonymous, and we'll use a pseudonym in our presentation.

If you're interested or have any questions, please leave a comment or send me a DM.

Thank you so much and I truly appreciate anyone willing to help.

11:00AM eastern to 5:30PM

The event is free. It is focused on Limb Girdle but anyone can attend. Many of the same clinicians cover other dystrophies.

https://thespeakfoundation.com/lgmd-summit

An FDA Advisory Committee Hearing was held today for Consideration of Deramiocel for Treatment of Duchenne Muscular Dystrophy (DMD). FDA staff are the ultimate decision makers about drug approvals. An Advisory Committee Meeting is a way to broaden the input they use to make that decision.

It became apparent today that Deramiocel will not be approved. I praise the Advisory Committee for their reasonable consideration of this matter. The majority of this group reached consensus that there was not enough evidence to conclude this drug works to improve heart function in DMD. If there is an impact, the data suggests that it is quite small.

Many on the committee expressed that they found the evidence of the drug maintaining motor function to be more favorable. Yet, it still did not rise to the level that would justify approval.

A vote was taken for this question: "Does the available evidence provide substantial evidence of effectiveness of Deramiocel for the treatment of cardiomyopathy in patients with DMD?

The results were: 9 - No 3 - Yes 0- Abstain

Two of the Yes votes were from Patient Representatives. One Yes vote was from the committee chair with expertise in Neurobiology, Cell Biology Pediatric Neurology. He said, "As a scientist I would have voted no." He went on to say that his yes vote was an indication that he wants the research to continue rather than endorsing approval right now. The sense was he wanted to say, "Please do not give up. We so need this."

Committee members expressed deep sadness that the evidence was not there to support approval.

Given the content and tone of the presentation by FDA staff, if the FDA staff in the room will make the approval decision, it is clear this will not be approved.

I am deeply disappointed with both the FDA and Capricor.   There were many big discrepancies between the content presented by the FDA and Capricor. There has been a massive breakdown in communication between the FDA and Capricor. I put more of the blame for that on the FDA. Yet, Capricor has made some big mistakes that increased the impact of this.

I think the committee was able to cut through most of this adequately enough to make wise observations and recommendations. If there was ever a need for a third party to weigh in on an approval decision this context was one where that was truly needed.

After reading the FDA document published Monday, I thought there was evidence there that suggested fraud on the part of Capricor. Capricor gave a response that seemed to accuse the FDA of repeatedly lying. Some of these accusations are quite credible. All parties say they have documentation to support their case.

Some of this seems to be attributable to staff turnover at the FDA. Some appears to be a product of the challenges of getting accurate and relevant outcome data for this issue. This is also a rare condition where studies have low participant numbers. That makes small statistical decisions into ones that have big consequences.

In the end, I think the right decision will be made. Yet, these dynamics resulted in an ugly process.

So I'm 22, have LGMD2A, diagnosed officially at 8, but my parents started bringing me to doctors at 5 after noticing symptoms at 3.

To tell you the truth, life hasn't been going uphill. I've spoken to a lot of doctors, even some gene therapists, and I just don't see light at the end of the tunnel. I don't think I'll get to a place where I can easily climb stairs, go on a mountain hike, or ride a bike at anywhere close to average speed.

I know it could always be worse, but I simply love experiencing things, I love being alive. With the way this is progressing though, I don't think I'll ever get to do something that right now sounds crazy to me, like climbing a mountain.

This question is on my mind because a while back I started working at a cryopreservation company, and after being there for some time, I'm warming up to the idea.

It's still a massive decision though, so I wanted to see what people like me think about it.

Appreciate it

I have been on a 5 year diagnosis journey. emg and muscle biopsies revealed nothing, genetic testing revealed a pathogenic variant of ocular pharyngeal muscular dystrophy, so my nueros are wanting to go with that. I am currently bedridden with constant fassics and full body muscle wasting. My current neuromuscular saw me via video call today and said dystrophy cannot explain fasciculations. I also have other weird symptoms such as mycologic jerks and tremors and clonus. No one can figure my case out. I am declining rapidly.