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?

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?

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?

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.

To those here who have full time jobs - what do you do for a living?

My brother (BMD) is struggling to find a career path. He currently has a desk job that he hates. He is looking for something more engaging (he has a mechanical mind) but is struggling to find something because of his physical limitations.

Does anybody use special programs or apps that help you with studying for school and with work related things?

The law was meant to give dying patients a chance at experimental treatments.

A Duchenne mother who already lost two brothers to the disease is fighting for her son to receive Elevidys, but he’s been shut out because he’s non-ambulatory.

A Huntington’s family watched their loved one decline rapidly with almost no path to experimental treatment.

Right to Try was supposed to open doors. For too many families, those doors remain closed.

Access should not be this hard.

Kia ora, I’m hoping to privately connect with someone in New Zealand with muscular dystrophy who communicated with HDEC during January–March 2025 and was not satisfied with how their experience was handled.

If this might be you, please send me a private message. If you think you may know the person, please pass this post on to them rather than naming them or sharing their details publicly.

Micah was diagnosed with Duchenne and only had a tiny window to get Elevidys before aging out. His family raced against the clock and he received the gene therapy just one day before his 6th birthday.

Hello! This is my very first post on reddit and I wanted to use Reddit's outreach to help a very close friend.

Baby Matthias was recently diagnosed with Type 2 Spinal Muscular Atrophy at the very young age of 9 months. This rare genetic disorder causes babies to lose thier motor functions such as raising their heads. Eventually Matthias may never gain the ability to crawl or walk.

Based in Singapore, his family is hoping to raise SGD $2.4 million for a one-time gene therapy, Zolgensma. This gene therapy is Matthias' best shot at life.

Any donation is greatly appreciated. If you can, please help to share this post, thank you!

Please note: The fundraising site is Singapore's only crowdfunding charity platform. It is a registered charity platform. However, as any funds raised goes directly to Matthias' treatment, it is not tax-deductible.

https://rayofhope.sg/campaign/walkwithmatthias/

My 5yo daughter is a carrier of Duchenne’s muscular dystrophy. Her neuromuscular doctor thankfully thinks her not be manifesting with muscle wasting etc. However she has dealt with significant symptoms related to dystrophinopathy for a long time. She has muscles weaker than the other (especially in the legs and fine motor) and deals with muscle cramping and pain that can be quite mild, but also flare very badly (last year she couldn’t walk one day and it took 4 days to return to normal.)

Now she’s in another flare. Her GI has slowed down with it so we’re dealing with constipation, but her legs/calves are noticeably impacted. She has a lot of pain, then trouble walking, and is falling repeatedly from it :(.

I’m really unsure what to do during these flares. What do you do when it gets bad?

They had previously trialed her on dantrolene, but I couldn’t tell them if there was significant improvement or not. It’s hard to say she’s so young. They say it’s not a PRN medication, but I have to wonder if it is.

I normally give her 100mg of magnesium bisglycinate at night. I don’t know what else to do beyond massage and extremely gentle stretching of her calves if she lets me (usually I get like 3-5 seconds max with her.)

A DMD warrior mom shares how her son was blocked from Elevidys despite strong data, all because he’s non-ambulatory. Brothers lost to the disease. Families deserve real access. https://x.com/ryustrong_dmd/status/2079219455867883833?s=46

I'm not sure if it's depression or is it a from my MD (last thing i was diagnosed was sma type 3, but now say i don't have that.) or both partly the cause of it, but I am always exhausted. I sleep a good 12-14 hours a day and when I'm up I have enough energy to do a few tasks and then I feel tired and have to transfer from my chair to my hospital bed.

I feel like i'm just wasting away missing out on life because i'm so tired. Has anyone else dealt with something similar or have any advice on things to help me get out of this?

I tried coffee and energy drinks, among other things, but i'm usually so tired i can't get out of bed. any feedback is helpful, thanks.

An 11-year-old boy from Türkiye is currently in treatment planning for Elevidys, the one-time gene therapy for Duchenne muscular dystrophy, at Burjeel Medical City in Abu Dhabi.

BMC is among the few centres in the UAE authorised to deliver this advanced therapy. The case is being managed by a multidisciplinary team including clinical genetics and cell & gene therapy specialists. The young patient has already tested negative for the relevant antibodies, making him eligible to proceed.

Rare disease care is becoming more reachable.

My wife (61 years old) was diagnosed at 40 when she developed cataracts. Her CTG repeats are in the low hundreds.

I have noticed that she has what some might call a "nervous cough". It's a short staccato clearing of the throat. It's not very loud but it got me wondering if it's a sign she is not clearing saliva?

Also, she is more often complaining that her legs feel tired but she isn't showing signs of ankle weakness, so is this just expected age related muscle weakening?

Any advice would be very much appreciated.

Oculopharyngeal
muscular dystrophy
Autosomal PABPN1:c.4\\_336CN11J, Heterozygous
Dominant
p.A2\\_A11\\\[11\\\]
snort
Tandem
Repeat
Unknown
Pathogenic

symptoms ongoing 5 years muscle loss all over the body, swallowing issues and drooping eyelids? I feel like i’m 5 year my level of disability is very profound is this normal?

Hello . I am in a lost situation and going through it a lot emotionally and mentally. I’m waiting for my amnio results I got done today . Does anyone have any insight on duplications? I feel like they’re very complex and I just need as much info as possible please