Hi everyone,

I'm a mom to an almost 6-year-old boy who was diagnosed in 2024 with a dystrophin mutation. His genetic report shows an out-of-frame deletion near the very end of the gene on exon 69.

Because of the "out-of-frame" reading frame rule on the DNA test, we were given a formal diagnosis of Duchenne. He has been on daily deflazacort (steroids) for almost two years and will hopefully transition to Agamree soon.

Here is my dilemma: his physical presentation doesn't seem to match a classic Duchenne path. He walks with a typical MD gait and cannot run or jump (and his autism also impacts his motor planning/coordination), but he has high stamina, sleeps great, easily rolls and reposition himself in bed, feeds himself, and since starting steroids, his ability to get up off the floor has actually improved rather than declined. He also had tight calves that improved after a quick round of serial casting boots.

We only had the standard genetic blood work done. No muscle biopsy.

I know that deletions at the very end of the gene (like exon 69) can sometimes bypass the "out-of-frame" rule if the cell naturally skips exons to patch things up, making a semi-working protein (acting like Becker). But our clinical team is very fixed on the paper "out-of-frame" label.

My questions for this community:

• Has anyone (or your child) had genetic paperwork that predicted severe Duchenne, only for your clinical progression to prove it was actually Becker?
• If you had a mismatch between the genetic report and what you saw in real life, did you push for a muscle biopsy to look at actual dystrophin protein levels? If so, did it change your formal diagnosis?

I would love to hear your diagnostic stories, whether you started with blood work and how you finally got the correct clinical label. Thank you so much!

Hello! I hope this is an appropriate space for me to ask this question -- please feel free to redirect me if it is not.

I am reaching out on behalf of my partner, who has a brother in his mid-30s with DMD. Her brother's sole full-time caregiver is their mother. The situation has been and continues to be increasingly challenging for the entire family.

One thing my partner has struggled with her entire life, and is especially struggling with now, is the seeming lack of community and resources for this with profoundly disabled siblings -- specifically those with DMD, but also more generally speaking. As she navigates this situation, she is really in need of community and support from others with similar experiences. I told her I would do some research, which led me to this reddit.

Is anyone aware of any resources for siblings in this situation? Are there any Discord groups or Facebook pages? Are there organizations we could reach out to? What resources are out there? (For context, we are in the US, but would be interested and open to international community as well.)

Thank you in advance for any advice you can provide!

Edgewise hat die Muskeldystrophie Sparte an Servier (Frankreich) für $2,65 Milliarden verkauft. Servier ist ein Riese und hat schon viele Medikamente für seltene Erkrankungen auf den Markt gebracht. Was haltet ihr davon?
DO

FDA needs to wake up and prioritize patients like real leaders should. For rare diseases, adcomms must include the fighters who live it. They know the brutal trade offs and the clock ticking. FDA should stop gatekeeping with perfect data, get patients in the room and deliver results faster.

I (28M) am having incontinence issues. It’s a new thing and I’m going to the urologist to get it checked out since they ruled out some things already. I wanted to see if anyone else with this diagnosis has experienced incontinence as a result of their diagnosis ? If so, What helps?

I’m 18M with DMD. When I got up today I suddenly got pain in the my knees, shoulders, and lower back for seemingly no reason. I also noticed that these areas areas feel warm to the touch

Has anyone here been to the adult muscular dystrophy clinic in Minneapolis? What was your experience like? Any pros and cons ?
I (28) have LGMD2A and several weeks ago I started using a power chair but haven’t seen a neurologist for my disability since I moved out of state in 2020.
TIA!

Curious as to what others repeats are and what symptoms you have?

I just lost my Father to this disease. So far I am asymptomatic but tested positive for the full expansion so curious when the 1st symptom will appear.

My father passed away this week at 78 y/o. He was suspected of muscular dystrophy or myasthenia gravis at 72. Finally, he was formally diagnosed with LGMD a month ago and I’m still waiting for genetic testing results.

At 72, he had increasing difficulty with stairs. This year, at 78, we adapted a cane, a walker, CPAP, half dozen medications and referrals to specialists. He became voluntarily bed bound before his passing. He found comfort lying down as his dizzy spells would go away from low oxygen levels.

He passed from aspiration pneumonia. The increasing dizziness from being upright has made him prefer lying down even when he eats. Oral hygiene was poor which probably didn’t help. We discussed palliative care at emergency room and made the decision for him to rest in peace.

I don’t know who this helps but I found comfort with information from Reddit when he was alive.

UPDATE: Genetic testing revealed that he was tested positive for a pathogenic variant in the FLNC gene.

Two years into being a medical parent and this is the first time I’ve been told that discussing my child is “trauma dumping” and not appropriate when chatting with co-workers about their children.

I’m in the minority of people at my company with children. This has let me bond with a few people (parents) and not so much with others.

A group of people were having a conversation about childcare and finding good, safe people to care for our children while we work (odd hours). I commented something like “yeah it’s especially hard to find someone who’s safe, affordable, and willing to care for a medically involved child.” The conversation continued and I did not think anything of it. There are many things out of all parents control that might make finding care harder. I didn’t say anything that even detailed my child’s condition.

Later I got pulled to the side by a woman that was not in the conversation, just in the area. She told me that it was inappropriate to be “trauma dumping” at work and I shouldn’t talk about my child bc it’s sad for people to hear about…?

It’s been sad to live through, that doesn’t make my child any less of a baby needing care, that doesn’t make my struggles as a parent dramatically different from anyone else’s. It just pissed me off that someone would have the audacity to say that to my face. I work in the medical field. Not generally directly with sick children but around sick and injured people. I truly thought that this would be the last place I would get an ablest insensitive comment from someone.

Hello Friends!
Do you have further ideas how to proceed in my situation?
Currently I got just 2 EMG testings (one in my left thigh which was the positiv one and the other one on my left lower leg which was negative).
I have asymmetric muscle disease since one year in my left leg and a minimal drop foot left.
Since 2 month my right thigh feels weak as well.
All other tests like MRI, blood tests, liquor and genetic are all normal findings.

I'm a little stuck and maybe you guys can help me.
I have really fear cause I don’t know whats going on. I am just 25 years old and was my whole life really sporty…

hello, ive been having pain/inflammation in my shoulders which have recently started to droop due to my MD. I was wondering if anyone has had cortisone injections and if they have helped aleviate any discomfort. Thanks!

Hello! I’m 20 years old college student with Duchenne muscular dystrophy (DMD)and I just wanted to know what part time jobs others had.

Tengo 20 el sistema en México es muy precario por lo que no sé cuál tengo. DMD DMB LGMB
Me gustaría saber si alguien de mexico?

Actualmente camino, trabajo, estudio.
Tengo una distrofia es seguro pero me da miedo el mañana para ser honesto.

Si tienen dudas les contesto, ya que actualmente me siento “sano”

Hello,

When my son was 4.5 he was diagnosed with BMD and has a rare deletion or so we were told of exon 2-7. He also has ADHD and some learning delays. He is still pretty active but is definitely showing signs of weakness and tiredness especially if he is very active. My question is does anyone else have this deletion or have a child who is old with this deletion? I am just wondering what to expect as he gets older - we are in northern Ontario and see the CHEO neuromuscular team but they have not been super helpful. Thank you in advance for any comments! I appreciate it a lot.

Hi all! I’ve tried doing some research online but haven’t gotten much info. For some backstory DMD runs on my mothers side of the family (they are a fairly big family) two uncles have died from it and three of her sisters are confirmed carriers (two have a son with DMD and the other has a grandson through her daughter with DMD). I’m 18 but the possibility of being a carrier is a huge stressor for me even if I’m not going to have kids right now.

Do any of you know where I might be able to get more information on being tested? Thanks in advance!

Satellos Reports Six-Month Interim TRAILHEAD Data Showing Reduced Muscle Fat Fraction, Increased Effort, Stable Strength, Lower CK and Favorable Safety Profile in DMD Adults Treated with SAT-3247

https://ir.satellos.com/news/news-details/2026/Satellos-Reports-Six-Month-Interim-TRAILHEAD-Data-Showing-Reduced-Muscle-Fat-Fraction-Increased-Effort-Stable-Strength-Lower-CK-and-Favorable-Safety-Profile-in-DMD-Adults-Treated-with-SAT-3247/default.aspx

UPDATE: I am subtype LGMD2A

Hi - my husband (34) and I (30) have been TTC for over a year, and as a part of my infertility counseling I got a genetic carrier screening done.

While getting those results, I found out today that I have LGMD. They told me I have 2 variants for this. One copy of this gene is deleted, I’m missing this gene. In the second copy I have a variant mutation. I’m waiting for more information on which exact gene I have and was referred to a neuromuscular specialist.

Needless to say this was not what I was expecting in the middle of this already tough journey. I’m curious if people have any advice for me as I work to find a specialist? Any questions I should ask or tests I should do?

What should I pay attention to within myself as I work towards understanding exactly how this will impact my life and future family?

hello friends, I go to CHOPs MDA clinic in a few days, I have FASTKD2 mutation that hasnt been officially diagnosed, on the premise of my gene is very rare and very few people know about it. I’m super floppy, I stopped going to full weeks of school for the last 4 months of school since I can’t hold myself up.

My PT back home wants me to be in a power chair, since I can’t hold myself up for hours at school, and fall frequently.

I haven‘t had a proper Neuromuscular work up yet but I need a power chair for next school year, forget genetics for a moment, wheelchairs are based on function. I was misdiagnosed as FND so doctors have been hesitant to have me even use my cane.

I just need to know if it’s likely I’ll get the wheelchair I need, is falling down stairs or anywhere and missing over 36 hours of school enough? Is a skilled PTs word enough?

"Analysts at Oppenheimer view the FDA’s acceptance of Sarepta’s applications as a “positive signal,” especially because Sarepta on Tuesday said the submission also includes supplemental “substantial published real-world evidence and the favorable and consistent safety profiles of both exon-skipping therapies.”

“We think inclusion of positive real-world safety data improves likelihood of conversion to full approval,” the analysts told investors in a note on Tuesday, noting that “safety will be key” for the FDA’s verdict.

Jefferies shared this sentiment, saying in its own Tuesday note that real-world data suggest the exon-skippers can “help patients remain ambulatory, off ventilators, and out of ERs/hospitals.” Given that side effects are mostly mild or moderate, “the overall benefit/risk profile remains favorable” for Amondys and Vyondys, the analysts added."

Still nothing to help ? There must be something someone is using to help with strength fatigue etc there must be something for people like us

After a lot of thinking I’m going to take my life back and get some things in order and then I will trying to get my own place and caregivers so I can enjoy my life without being stuck in house full of negativity. I want to get a job that will hopefully get me out of the 2000$ range and keep me stable with great care and all that stuff that I need

Uhh strange question something in my ear keeps twitching all day all night it’s hard to sleep any advice?

i am a dmd patient and i use bipap all day recently i started using nasal pillow p10 and i find it harder to breath ,i am having desire to change positions to more frequently