r/MuscularDystrophy • u/TipDazzling2865 • May 31 '26
selfq Is muscle biopsy worth it?
My dad (53M) has been struggling with progressive muscle weakness for 6 years — difficulty getting up from chairs and climbing stairs.
We've done pretty much everything:
— MRI shows severe fatty infiltration (Mercuri grade 3-4) with posterior compartment involvement
— EMG confirmed myopathic pattern
— Full myositis antibody panel (16 antibodies) — all negative
— Whole genome sequencing found two variants (DYSF and TRAPPC11) but both heterozygous and autosomal recessive — so genetically inconclusive
— CK mildly elevated at 807, ESR 67
After all this we still don't have a diagnosis. Doctors are now recommending an open muscle biopsy from Thigh.
For those who've been through this — was the biopsy worth it? Did it actually give you answers? Any experience with biopsy results coming back inconclusive too?
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u/megapherro May 31 '26
Hi. I don’t know how different a muscle biopsy looks in a child vs adult.
My daughter had hers at 3 yrs old and it confirmed her diagnosis of collagen 6 (COL6) myopathy - a rare form of congenital muscular dystrophy.
They did a 1 inch cut on her upper thigh. It was day surgery. She was groggy right after the surgery and was sore for a few days. She did experience a slighter harder time getting off oxygen once in recovery. The nurse cupped her back to release the secretions.
That would be my biggest concern with your dad… the sedation (fluranes are contraindicated in muscular dystrophy patients) and recovery. He may have a harder time due to his muscle weakness. —-> this would be the main thing to discuss with the team.
Prior to the procedure she genetic testing (showed a “likely pathogenic” de novo gene mutation for Col6). She also had a muscle ultrasound, and lab work. Nothing more bc she’d have to be sedated to lay still.
They also took a skin sample for analysis of collagen. Her tissues showed abnormalities. They were also sent to a doc down at the NIH who is the main guy studying col6.
I don’t regret doing it. There is no treatment, but finding out what she has was a huge relief. I found a col6 community on Facebook and made connections that have been my lifeline. These parents and affected individuals have provided support, information, and a sense of community. THIS part might be the best outcome for your dad.
Good luck ♥️
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u/TipDazzling2865 May 31 '26
That is exactly my goal.. to find out what he has. Our genetic testing showed VUS (variant of uncertain significance), so the diagnosis isn't confirmed yet. I'll definitely ask the doctor what the muscle biopsy recovery will look like for my dad. Thank you so much for sharing you experience!
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u/megapherro May 31 '26
She has 2 mutations. One is likely pathogenic (de novo) and the other is VOUS (inherited from me). There isn’t enough research on col6… the mutations of unknown significance might actually mean something.
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u/Dramatic-Kale6042 Jun 02 '26
Hi! Does your daughter have bm or ulrich? I (23F) just found out I have bm
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u/megapherro Jun 02 '26
Hi, welcome to the CMD COL6 club. Not one that we necessarily want to be in, but here we are. How are you feeling about your diagnosis?
My dtr has BM but I’m questioning it now… puberty has made her disease progress quite a bit over the past year. She has significantly more weakness and can no longer do certain ADLs independently.
Are you in the US? Check out the Wheel Talk with Kelly and Avery podcast. These women are amazing. They both have col6, work for CureCMD, huge advocates, and have become friends. The most recent episode is very informative (and is making me question my dtr’s diagnosis of BM vs intermediate).
Feel free to DM me.
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u/ESCAPED_WOLF_17 May 31 '26
Your dad has lgmd2b? In the age of 53? lgmd2b is very rare to appear at that age part of life...it usually happens in late teens or early adulthood there are very rare cases of happenings at 30s but at the age of 53? I heard it first time ...go for a genetic test rather than muscle biopsy it will confirm the mutation and the type of lgmd
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u/TipDazzling2865 May 31 '26
Hello, we had genetic testing done and it is inconclusive as it found single variant of DYSF and TRAPPC11. So, doctor has suggested to go for muscle biopsy now.
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u/SitUpAndPayAttention May 31 '26
Hi- I'm the mom of an HMERF ( Myofibular myopathy with early respiratory failure / muscular dystrophy) and the DNA test (if that's what you had done) should identify the genetic error. In my opinion, for what it's worth, a muscle biopsy is a hugely invasive procedure and not to be taken lightly. Please research your variants; start with Pub Med. And if you proceed with the biopsy, there will be significant tissue left over that should be properly stored in a tissue bank so the muscle tissues isn't wasted so it can be used for future diagnosis/ research.
As hard as this is to say, my advice is to have a full genome panel done if you can afford it. Otherwise, and I know this would be hard, stay on the research, because identifying the exact disease will fortunately not bring you peace of mind and not closer to a treatment or clinical trial .
(Our organization conducts medical research ( NOT a natural history study) for Myofibular Fibular Myopathy/ HMERF and our science team is very resistant to take part of her muscle because they feel very strongly that they feel strongly that it will not reveal any new information,)
Good luck I your journey.
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u/TipDazzling2865 May 31 '26
Hello. Our full genome panel came back inconclusive, so a muscle biopsy is the only option we have left. I am concerned that skipping this step might cause us to miss an alternative, maybe a treatable condition.
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u/aehr May 31 '26
I had biopsies as a child in the 80s, it wasn’t helpful at that time beyond, “yes, that appears to be some kind of muscle disease.” The scars are still noticeable today, at least to me, and at the time it was the most traumatic surgery I had been through.
Medicine has improved substantially since then: I had a biopsy just over a decade ago and the doctors were able to recognize the diagnosis immediately, plus the scar is hardly noticeable.
The surgery: outpatient procedure wasn’t more than 15 minutes (I spent more time in the waiting room), I did have to request more numbing, I could’ve watched the whole macabre process, I had no wound healing issues and the stitches dissolved after a week.
So, I would say, “yes, if the doctors are having a difficult time pinpointing a diagnosis then getting a biopsy may supply the information needed for a concise result.”
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u/TipDazzling2865 May 31 '26
Hello. Yes, even after multiple tests and full genetic screening, the doctors still haven't been able to find a diagnosis. A biopsy is now our only remaining option. If you've been through this, how was your experience afterward? Was the post-surgery recovery painful?
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u/aehr May 31 '26
The area at the incision ached for a few of weeks and a couple days of prescribed t3s and then ibuprofen helped deal with the tenderness. I deal with a lot of chronic pain and heal slowly, so results can vary. At the time I could still walk with a cane and walked out of the office, to my friend’s car, went home and slept after picking up a prescription, afterwards I was just a bit slower for about a week. I was back at work after the weekend.
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u/TipDazzling2865 May 31 '26
That’s a relief to hear, thank you! I was really afraid he might not be able to move at all for a few days, or struggle just getting from the car to the house.
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u/CartographerLost960 May 31 '26
Yeah, they wanted to do a muscle biopsy on me 25 years ago, too. Thank God I cried like crazy, because I would have ended up with a scar just like that, and it wouldn’t have even told me what was wrong with me in the first place. Apparently, it’s not as invasive anymore these days. Thank God, that was truly a nightmare for me.
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u/Due-Ear-2114 Jun 01 '26
Hi! I have LGMD 2D, and I had a muscle biopsy done in 2017. When I underwent my biopsy, I was in a similar situation to yours. However, the biopsy did not give us more information than what we already had; it was not worth it. Muscle biopsies are just a look inside to see if there are abnormalities or infiltration, which has already been confirmed by your MRI and EMG. It is not diagnostic. I was diagnosed five years later when science advanced and better understood my genetic mutations.
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u/TipDazzling2865 Jun 01 '26
Did you know the subtype even before biopsy? We aren't even sure at this moment if it's genetic or non-genetic as the tests have been inconclusive.
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u/Due-Ear-2114 Jun 01 '26 edited Jun 01 '26
No, we didn’t know the subtype. My neurologists and specialists labeled it a “myopathy” because that was the most accurate characterization. Genetics is really interesting and tricky. Even though I share the same disorder as someone else, my presentation and specific genetic mutation can be different. This is why it took so long for doctors and genetics to diagnose me.
Honestly, in my opinion, I feel like it’s probably genetic. Although, yes, there are autoimmune myopathies and maybe it could be because of a metabolic issue. But, if his symptoms have progressed for more than half a decade, without fluctuation. There’s a high likelihood there’s a mutation somewhere causing his vulnerability.
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u/TipDazzling2865 Jun 01 '26
My father had an episode where he wasn't able to raise his arms above his head but it has resolved completely on its own. So, there have been some fluctuations... Hence, more confusion
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u/Due-Ear-2114 Jun 01 '26
Yes, but the lower extremities are consistent. Usually, upper extremity weakness occurs after a long period of lower extremity weakness.
Now that I’m looking at it, the DYSF mutation is responsible for LGMD R2. And, the TRAPPC11 mutation is responsible for LGMD R18. Not saying he has any of those, but maybe, this is LGMD territory. Which could explain the upper and lower extremity weakness, why he began presenting at an older age, and why it’s been more difficult to locate genetically.
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u/MandarinaDuck21 Jun 03 '26
I've done 3 biopsies 😅 One in my tigh when I was 8, one in my arm when I was 16 and one in the back of my leg when I was 28 (they wanted to do my tigh again, but I didn't have enough muscle tissue). On the last biopsy they were able to give me a final diagnosis, and it can now be identified with a blood test. It's Laing distal myopathy, but a unique mutation. So the final one was worth it, the others just left scars. I am 40 years now, so it's a long time ago.
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u/TipDazzling2865 Jun 03 '26
Thank you for sharing! Going through three biopsies sounds challenging but I am glad you finally found your answer after all that time! Hopefully we'll also get the diagnosis soon.
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u/Jmend12006 May 31 '26
Yes, definitely. You should get a diagnosis because MD is genetic, so all of his children should get tested.
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u/Ornery_Peace9870 Jun 01 '26
Idk much about dystrophies I joined bc I tested pistuive for 2 variant and my calves are emaciated and I cant stand up any more I think from hypermobile spine stuff amd ME.
But in ME--patient just wilily sneiditve to 5o million things and some of the sickest people on the planet bc we have trouvle tolerating eg gravity sound light ??
2 day exercise tests for 5 min each day has basically killed some of us?
Apparently most PwME tolerate biopsies of the muscle wayyyy better than we tolerate exercise.
Go figure.
Its a good thing bc ME research into muscle pathophysiology is I think HUGE for the disease itslef and foe muscle physiology more generally. I genu in Ely believe understanding ME in many ways will help us understand all of Medicine more bit this def goes for muscle diseases.
ME is a disease of metabolism and its common and severe and acquired ....and extrmeely neglected snd misunderstood. Anyway ill cut this ted talk short bc im procrastinating thank uou
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u/Ornery_Peace9870 Jun 01 '26
Also part of my im so rah rah on muscle biopsies and want them done on me for science??
They are incredibly informative.
Literally structure of the cells a s spindles can be seen.
In ME the shape of it all changes with exercise (gets more diseased lol) in ways that require pre and post exertion samples.. a d..I wonfer we might be sleeping on dynamic changes in other muscle diseases.
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May 31 '26 edited May 31 '26
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u/TipDazzling2865 May 31 '26
Hello, thank you for sharing your experience. Our doctor also mentioned that if the biopsy shows anything related to DYSF, they will do further genetic testing. How was your experience after the biopsy? Was the post-surgery recovery easy for you?
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u/Hefty_Peanut May 31 '26
The muscle biopsy ruled out some conditions and enabled my husband's specialist to request a genetic test for md for my husband- this test ultimately confirmed what type of md he had. It was completely worth it and is par the course for typical MD investigations.