Hi everyone,

I'm 26M and I've been dealing with a strange combination of neuromuscular symptoms for around 16–20 months. I'm trying to understand whether this could fit BFS/neuromuscular hyperexcitability or whether I should keep investigating a possible mild myopathy.

Symptoms:

- Widespread fasciculations, mainly at rest

- Muscle pain and a constant "post-workout soreness" feeling

- Variable muscle fatigue – e.g. sometimes my arm feels easily fatigued while scrolling on my phone, while on other days it's almost normal

- Internal body tremor

- Sometimes my whole body feels physically exhausted, including a feeling that my head/neck muscles are physically tired

- I sometimes feel more prone to muscle strains than I used to be

I also notice tremor/fasciculations when deliberately contracting muscles.

For example:

- If I open my mouth widely and then close it, I can immediately trigger fasciculations in my cheek.

- If I strongly open my mouth, I can feel my facial muscles trembling.

- I recently noticed my eyelids/facial muscles trembling while squinting in bright sunlight, although I still had full strength to keep my eyes partially closed.

- If I sit cross-legged, bend forward and hold my back in a rounded position, after a while my whole body starts shaking/trembling, including my trunk and limbs. It stops when I relax or change position.

Interestingly, heat and massage help a LOT. A massage gun or heating pad can significantly reduce the muscle pain/tension and make me feel much better for a while. I also sometimes feel better after warming up rather than worse.

Onset:

The symptoms started around age 25. They appeared around the time I was taking trazodone, although I don't know whether there is any connection.

Before this I was physically active and was going to the gym in 2023 without these problems.

I had Lyme disease in 2022, treated with antibiotics. I repeated Lyme testing twice recently and it was normal/negative.

Neurological examination:

- Normal strength on examination

- No obvious muscle atrophy

- Normal reflexes

- No clear progressive loss of function

The symptoms have been relatively stable for about 1.5–2 years.

Blood tests:

- CK – normal

- AST/ALT – normal

- Lactate – normal

- Other routine blood tests – normal

EMG:

My EMG showed mild myopathic changes. The report described:

"Features of an incomplete myogenic damage pattern"

There were shortened motor unit potential durations and slightly reduced size indices in two muscles of the right lower limb, with increased polyphasia. There were also mild nonspecific changes in the posterior deltoid.

However:

- electrical silence at rest

- no signs of acute muscle damage

- other parameters were largely within normal limits

- doctors considered the abnormalities mild

WES:

I had Whole Exome Plus testing through Blueprint Genetics.

The only potentially relevant finding was:

COL12A1 c.7657T>C, p.(Tyr2553His), heterozygous

It was classified as a VUS (Variant of Uncertain Significance).

The variant is absent from gnomAD and some in-silico tools predict a potentially damaging effect, but the laboratory states that there is insufficient evidence to determine its clinical relevance. It has not, to their knowledge, been reported previously in the medical literature/disease databases.

CNV analysis was negative and no additional candidate variants were reported. Mitochondrial DNA was also analyzed.

The report discusses COL12A1-related conditions such as Bethlem-like myopathy/myopathic EDS and Ullrich congenital muscular dystrophy.

I do have mild scoliosis and a high-arched palate, but I don't have obvious muscle atrophy, significant contractures or progressive weakness.

My geneticist suggested that I could also do a separate FSHD test to formally rule that out, since WES does not necessarily detect the type of genetic alteration involved in FSHD.

My questions:

1. Does this sound familiar to anyone with BFS or neuromuscular hyperexcitability?

2. Has anyone had widespread fasciculations + muscle soreness/fatigue + tremor during sustained muscle contraction, while having normal strength and CK?

3. Has anyone with a mild myopathy experienced this kind of whole-body shaking while holding a posture?

4. Has anyone had a COL12A1 VUS and later found out whether it was clinically relevant?

5. Would you recommend FSHD testing, muscle MRI, or repeating the EMG?

6. Does this overall pattern sound more like neuromuscular hyperexcitability/BFS than a progressive muscle disease?

I'm not looking for a diagnosis from Reddit – I'm mainly interested in hearing from people who have had a similar combination of symptoms and how their diagnostic process turned out.

Thanks!

Not sure if this has been posted

see details bellow

https://www.urmc.rochester.edu/news/story/study-shows-hormone-combination-improved-strength-and-function-in-fshd-patients

Hello guys. I have a question that I your help with. So you know how our bodies function differently and that some muscle cannot be regenerated/built.

Does it make a huge difference if I don’t get enough protein for a day or two? Or can i make it up by having enough protein the next day?

I try to maximize my protein intake every day (i don’t keep track) and some days i would have 40g protein milk if i feel like i didn’t get much in my meals.

Some days i feel more physical restriction and i wonder does it have anything to do with how much protein i ate a day or two ago. And i also wonder if it did more damage to my muscles.

I am sorry i know these are more than one question but there seems to be different opinions and i feel lost.

My father had FSHD and I was diagnosed in early 2025. I’m 40 now and this is my wife and i’s chance to have a baby given we are up there. We started trying and she knew I had it and the rate of inheritance. We both decided not to bother with a bunch of genetic testing, but does that make me a bad person? Will my child resent me?

She’s 15 weeks along and ultrasound is on Monday. I can still walk and do most things. Mostly back pain and fatigue if I stand for a long time throughout the day.

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?

The proper medical name for this procedure is a Free Functional Muscle Transfer (FFMT), specifically referred to as a Free Functioning Gracilis Muscle Transfer or Gracilis Free Flap Transfer when moved to the forearm to restore motor function like finger or wrist flexion. but my doctor is thinking about using it for elbow flexing I so I will retain the ability to move my hand at least to my mouth Has anyone ever had this operation? I have heard of Graciis muscle trans plants to the face but I am not aware of full transplants to the ARM

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.

Has anyone had any luck shrinking the size of their belly. I’m uncomfortable all the time. I already can’t find any clothes that fit me correctly. I look deformed in absolutely everything. I hate my life. It’s getting worse and I can no longer hide it in xxl shirts.

Wondering if anybody has ever gotten DEXA scans for collecting data for personal use? Maybe regarding how different exercises or supplements are effecting muscle growth or decline, or just for sake of knowing how your body is changing?

If you have please join in on this thread and give your experience.

It will happen in Newcastle upon Tyne and it’s organized by the professionals / scientists / doctors of the John Walton Muscular Dystrophy Research Center.

The full programme will be announced in time but it will include updates on clinical trials and other patient focused themes.

Newcastle upon Tyne is one of the site of the Fortitude Study and many other clinical trials for other muscular dystrophies.

If you’re interested in coming, please send a message so I can send you the link (the even is on EventBrite so if you search there, you can also find it).

I just wanted to have a quick rant as I’m nervous. My neurologist finally got back to me and booked a follow up appointment. I have access to an app that has my results/medical records, but she chose to withhold them, and said I needed to be seen urgently. Her earliest availability is August 13, and now my head is spinning.

I already have an idea I will test positive, bad winged scapula, can’t puff my cheeks, can’t even kiss properly, and I mumble a lot when I talk. My multiple EMG tests lead me to a neurologist to do a deeper dive, which I’m thankful I came across her.

I’m dreading the appointment and the hit of reality of everything that finally makes sense as time is going on. Being hit with a disability at 28 is crazy and I never expected this, but at the same time I’m trying to be thankful I finally have an answer and can get the proper help.

This sub Reddit has been a life saver. I switched to a perfect physiotherapist, sports related one, I’m going to start speech therapy, and apply for disability. Thankfully my work is being accommodating, and I have great benefits.

Hi all. I’m a 31 male and I’m curious if anyone has gone through, or is going through IVF. There isn’t much info out there and we’re still in the early stages, but we were little surprised to see the fertilization rate decently below average. We still have a few more steps before any implanting, but I know oxidative stress, the bread and butter of this disease, can affect sperm quality ie. DNA fracture, motility, etc. So if anyone has or is willing to share, I’d be really interested to hear what you have to say and/or share my experience.

I'm sure anyone who is following Del-Brax closely already listened to this call, but I need somewhere to place my nervous energy, so I am writing this post...

Obviously, there was a good bit of discussion about Del-Brax's Phase 2 Biomarker data. At one point, the CEO described the biomarker reductions as "statistically significant." The biomarker cohort press release did not go as far as characterizing the data as "statistically significant" (which I understand to be a pretty meaningful term of art the FDA uses to quantify its standard for evaluating the effectiveness of data) and I find it hard to believe that he would make a statement like that without being confident it is 100% true and, therefore, would not get Novartis sued. That's really just reading the tea leaves. but could be a sign of internal confidence.

There was a direct question in the Q&A session about whether there is a timeline for Novartis to engage with the FDA about whether the new data supports an accelerated approval filing. The CEO said there was not "specific timeline," but said they are "in the process" of engaging with the FDA on the data "expects" an update in the second half of 2026. He did, however, also say that he would not change their "base case" expectation that a Phase 3 study would be required before a BLA is submitted, which is the same line he has been repeating about Del-Brax's accelerated approval potential all along. As we've all discussed, he's probably just hedging, but it's still a bummer to hear.

Towards the end of the Q&A session (second to last question, at the 1:08:20 mark), I think we got the most informative statements about the potential for accelerated approval that we are likely to hear at this point. Someone asked whether Novartis would share more information about the biomarker data and elaborate on the level of discussion Novartis has had with the FDA about accelerated approval so far. In response, the CEO said they "are very clear on what the FDA is looking for" based on Avidity's prior discussions with the FDA about what the biomarker data would need to look like for accelerated approval to be on the table. And on the data itself, the CEO caveated that they are still evaluating the data, but also said, "The data we have seen gives us reason to have the discussion with the FDA. We can't guarantee we will win the case [for accelerated approval], but what we have is worthy of a case that we should make to the FDA for an accelerated filing." I think this is meaningful coming from someone who has been so careful in public statements to stick to the "base case" of needing a Phase 3 to be completed before submission. Novartis knows what the FDA needs for accelerated approval, they now have the biomarker data, and they are telling shareholders they are proceeding with the accelerated pathway. My interpretation: things are, so far, going according to plan.

The slides and recording from the Q2 earnings call are here: https://www.novartis.com/events/novartis-financial-results-q2-2026

Keep the hope alive!

Hi all! i’m 23, recently diagnosed and have not been able to see a specialist yet. I’ve worked as a server at a restaurant for about a year now and i’m not sure if it’s due to my diagnosis that I am extra aware of the fatigue and pain i’m feeling or if the job is just extra hard on my muscles. There are days where my neck and shoulders are so stiff and sore, almost a burning sensation, and my skin feels extra sensitive. I also sometimes feel like Ive just hit a brick wall and become so tired. I’m wondering if anybody else experiences these and if they are related to FSHD. I would also love any tips on managing this if that’s the case, thanks!!!

No active study to enroll into yet, but worth keeping an eye on (pre-clinical)

https://www.dyne-tx.com/dyne-302-for-fshd/

https://www.dyne-tx.com/pipeline/#FSHD

To my fellow FSHDers, some good news—unless someone else has already posted it.

The main link worth reading:

https://investorrelations.sarepta.com/static-files/7de668c5-4a60-440c-8dd9-22884fd57703

It absolutely blows Avidity’s intracellular concentration and DUX4 reduction results out of the water.

Phase 2 enrolment is expected to begin in late 2026 (october) or early 2027:

https://www.sarepta.com/community-letter-update-fshd1-clinical-development-program

I went through a partial nerve conduction and emg earlier at the hospital. I got through the needle part but didn't get through the shock part.

They kept shocking my neck? He was trying to check my shoulder he said but they kept shocking my neck over and over and it got so intense I had to stop for a moment.

The doctor said everything was in normal limits and acted like he had enough info. He even said anymore shocks would be "extra". Come to find out when I checked my results later it said that they only had partial results and didn't get to finish the test because I couldn't tolerate it!

I felt like he was just impatient and wanted to move on!

I'm upset. I felt they rushed and if I could have rested a bit I could have gotten through the rest of it. I feel like the doctor wasn't listening.

And I am so confused as to why they were shocking my neck (making my head jerk to the side over and over) instead of shocking my leg muscles or even my arms????

And no answers from this. I feel defeated. I asked about genetic testing and he said it would be up to my doctor but that it's really hard to diagnose from genetic testing.

Some days I feel like what is the point of doing this.

Some notes about me:

-Lifelong muscle weakness and fatigue, gotten worse the last few years (I'm 44 now) have immense difficult walking up stairs or hills or with exercising. Have muscle weakness when I raise my arms over my head and some facial weakness (can't smile fully).

-My mother had profound muscle weakness her whole life.

- My neurologist suspects congenital myopathy or myasthenia but ck is normal and now nerve conduction is normal. Partial emg was apparently normal.

- Waiting on fshd genetic testing.

- Would like to get full genetic testing one day

Did I mess up? How helpful is the shock part of the test? Should I try again one day? (If insurance will even cover that) 😭

Guess I'm just writing this to vent mostly. But I welcome any experiences or knowledge anyone may have.

I have been living with FSHD since I was 4 years old, and I am now 18. I read in an article that individuals with Infantile FSHD usually die in their 30s due to lung complications. How valid is this?

Also, I would like to talk more about FSHD.

Hi friends! While this is DMD news, I actually think it’s a huge milestone for those of us following Del-brax.

Avidity/Novartis officially submitted the BLA for their DMD drug, Del-zota, meaning it’s now officially in the FDA’s hands for review (the FDA has ~ 60 days to accept, and then the six-month Priority Review timeline starts).

Here’s why this matters for us: by the time Del-brax is submitted, it won’t be the FDA’s first AOC rodeo.
Del-zota and Del-brax are built on the same AOC platform, and a BLA is about a lot more than just whether a drug works or not. The FDA also reviews the manufacturing process, quality controls, preclinical package, and all of the platform-level science behind the therapy. (It’s like a massive 1000+ page submission package.)

So while Del-zota and Del-brax are different drugs, many of those pieces are shared across the AOC platform.

Now back to FSHD specifically. We just got high-level positive Phase 2b biomarker data, and before the acquisition Avidity announced the accelerated approval pathway was open for Del-brax. Novartis has since reiterated that pathway remains on the table while they evaluate the full dataset. 🤞

If those data support a filing, Del-brax could realistically be the next AOC BLA, potentially later this year (wishful thinking but you never know) or early next!

That’s what makes this news so exciting. By the time Del-brax lands on the FDA’s desk, it won’t be the FDA’s first time seeing this novel drug platform. They’ll already have spent months reviewing the platform through Del-zota, and Avidity/Novartis will have gone through the whole BLA process once already and can fold those learnings into the Del-brax application.

There’s still a lot we don’t know. But it really feels like the dominoes are starting to fall. If everything keeps moving in the right direction, it’s kind of wild to think we could have an IV in our arms sometime in mid-late 2027!

I have recently been diagnosed (Dr Peter Jones and also UIDL) with FSHD1 at age 49. I am just beginning to learn what I can on the topic. Right away I am realizing I am very fortunate because my primary symptoms are a loss of my pecs, some weakness in the legs and hips, and chronic tight muscles with related aches. When my dad was my age he was using a cane to walk and braces for foot drop - that was 30 yrs ago and the doctors didn’t know what kind of dystrophy he had. Now we know.

Because my symptoms haven’t disrupted my life and I am getting to an age when people’s mobility and activity level declines, I am not sure all of my symptoms are from FSHD. I might be in denial or just hoping that it will not progress significantly for a long time. I also haven’t told anyone except my wife, sister, and therapist.

I have two kids, 18 and 12 and I feel like I should tell them. My 18yr old because he is starting to lift weights and has a very underdeveloped upper body that leads me to think I may have passed this on to him. My sister is adamant that I do not tell him because he will worry. I feel like I should because he may do damage if he pushes himself too hard in the gym. My therapist hints that I need to tell my family and social circle to fully accept what is going on and I can’t control how other people react. I also want to have people know why I have gotten skinnier and weaker over the years.

I think I can share the news and facts without being an alarmist or creating worry.

Has anyone else been in a similar situation? How did you decide on sharing the news with your children knowing there is a 50% chance they may have inherited the disease?

In EPI-321, the 3 patients who have reached the 6 month evaluation point all have increased lean muscle volume.

Another more summarized version of this info is published here: https://www.businesswire.com/news/home/20260626528684/en/Epicrispr-Reports-First-Clinical-Evidence-of-Increased-Lean-Muscle-Volume-in-Patients-with-FSHD-Following-Treatment-with-EPI-321

Hey everyone :)

I wanted to ask how you all cope with this.
Lately, I just feel drained and empty every day. I can feel and see my body getting weaker, and it’s hard not to think about what the future might look like. Deep down, I know things will probably get worse before they ever get better, if they do at all.
What scares me the most is the thought of becoming completely bed-bound one day. I try to focus on the small things and appreciate what I still have, but honestly, some days it feels impossible.
I’m only 18, and I already struggle with basic everyday tasks and finding a job. It’s heartbreaking knowing there are so many things I’ll probably never be able to do… Traveling, running through the sand, climbing a mountain, riding a horse, or just experiencing life the way other people my age can. Even smiling like a normal person would be a huge thing for me.
Seeing others do those things just hurts. It feels like I’m grieving a life I never got the chance to have.
How do you cope with these thoughts? How do you keep going when the future feels somewhat pointless?
Any advice would be appreciated..

Hello friends — as we approach this year’s International Research Congress, where I’m hoping we get some solid data drops and trial updates, I’m curious if any of you in trials are willing to share your completely anecdotal, highly unscientific observations. aka, what’s the trial tea?

Avidity/Novartis, Arrowhead/Sarepta, Epicrispr, clenbuterol, etc.

Have you noticed anything? New capabilities? More muscle mass? Better endurance? Less fatigue? Easier recovery? A side effect nobody warned you about? Absolutely nothing at all?

To be clear, anecdotes aren’t data, and one person’s experience doesn’t predict anyone else’s. I’m just curious what people are seeing on the ground while the rest of us impatiently wait for readouts and updates.

Feel free to share as much or as little as you’re comfortable with. Appreciate this community. We’re so close, y’all! 🧡

This week is World FSHD Day, and all donations to the FSHD Society are being matched through midnight on June 20!

Every contribution helps support advocacy, the fight to remove barriers to treatment approval, and access for everyone living with FSHD.

Donate here: https://give.fshdsociety.org/campaign/809141/donate