r/FSHD

Bro, tell me one thing. If anyone a U.S. resident and I am an Indian medical graduate. I have completed my MBBS in India, and I also have FSHD. There are currently several trials going on for FSHD, including those by Avidity and delbrax, among others. If I want to access these treatments, I know that even if they become available in India, they are likely to be very expensive, and it may take several years for treatments developed in the U.S. to become available in India. So, I am considering pursuing the USMLE pathway and becoming a medical resident in the U.S. Could this also benefit me in terms of accessing treatment? For example, if I start residency in the U.S., would having health insurance and potentially being eligible for clinical trials make it easier for me to access FSHD treatment? Or am I misunderstanding how this works?

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.

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!

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.

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?

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.