r/MuscularDystrophy

Hey all, this one's for the fellas. I'm wondering if anyone else has experienced this but I'm in my 20s and have been diagnosed with LGMD2A for about 10 years now. In my early 20s, I lost a lot of my ability to get or keep an erection and now I can barely get it without assistance. I feel, among other factors, this is significantly caused by my LGMD2A but I see no correlation between it and ED online. I know there's correlated in other forms but does anyone have similar problems with a form of MD that isn't linked to ED?

31M with FSHD, found an old blood test showing extremely high CK levels, curious if others have had similar results

I've had FSHD for as long as I can remember, though it really started kicking in around age 16. I used to be very active, today I can no longer do none of what I used to, though I'm still independent.

Anyway, here's what I found: going through an old blood test, I noticed one result that stood out compared to normal ranges.

CK (Creatine Kinase)
Normal range: 24 – 195 UI/L
My level: 1,143 UI/L

This test was done about 20 years ago, so I'm not sure what to make of it yet. I'm planning to get a new test done and will definitely be bringing it up with a specialist.

I'm mostly posting to see if anyone else with FSHD has had similar results, or knows more about what elevated CK levels mean in this context. Would be great to discuss!

I'll share any updates if I find something useful. 😄

I have FSHD type 1 and lately I’ve been looking much deeper into how muscles actually utilize creatine and energy (ATP), instead of just blindly taking supplements.

From what I’ve read so far, it seems like having creatine in the bloodstream alone isn’t everything. Intracellular uptake and muscle utilization matter more. I also came across research suggesting creatine uptake may improve with insulin, which is why I started taking it during/after meals or sometimes with a small amount of glucose/dextrose instead of on an empty stomach. I’ve also been paying more attention to hydration/electrolytes, since creatine seems heavily tied to water balance in muscle tissue.

Interestingly, after taking creatine more consistently again recently, I actually feel somewhat less drained/fatigued, especially in the mornings. It’s not a miracle or cure obviously, but it made me curious whether others with neuromuscular conditions noticed similar things.

Have any of you had positive OR negative long-term experiences with creatine?

My little brother Abdulahi was born in 2022, full of smiles and dreams. But now, at just 4 years old, he is facing the same rare disease that stole our older brother’s life. Doctors have confirmed he has muscular dystrophy, a progressive condition that weakens his muscles day by day.

We already lived through this tragedy once. My older brother was diagnosed young. By 14, he could no longer walk — he used his hands to stand, fell often without reason, and eventually became paralyzed. In June 2020, at only 19 years old, he passed away.

Now Abdulahi is showing the same signs: standing is hard, his strength is fading, and every step is a struggle. He is still young, but the disease is already stealing his childhood. he risks losing the ability to walk, eat, or even breathe.

so i am a 16yo dmd patient and lately because of respiratory issues sitting has been a pain. only lying down sideways is comfortable , so i am looking for eyes glasses which i can use while lying down sideways , i am not sad about not sitting i just wish to use my laptop while lying down , thanks friends

My brother of 15 has DMD, and we’ve been looking at possible options for education once he finishes middle school (in the Netherlands).

Do any of you guys have any ideas what someone with DMD can do as a job? Maybe this will spark up some ideas!

Regenxbio’s treatment rgx-202 results for phase III was released. And they seem to be very promising. They are planing to apply to FDA for approval. They are using similar methods with Elevidys but with a new approach as I understand. What I am curious is, will they have similar pricing? It is not affordable. Does anyone have any idea?

Hi all! I am a 22 yo who recently found out my bio father has myotonic muscular dystrophy type 1. His symptoms presented in his early 20s and he is now in his 50’s in a nursing home and lost all of his independence. I have a degree in genetics, so I understand some basic inheritance patterns (I know I have a 50/50 chance of having it). I have a genetic counseling appointment coming up and just wanted some clarity from people who have gone through the same thing.

1. Do symptoms present different in families based on gender?

2. I know it’s an anticipatory disease, but I am already older than when he was when he had symptoms- maybe that’s reassuring?

3. How do you step dwelling on the 50/50 before you know 😩 it is eating me alive.

Thank you, and sending hugs to everyone facing this terrible disease. Hopefully these clinical trials I’ve been reading about show promising results.

Glad I found this SubReddit. I am currently 25M and was diagnosed with Miyoshi MD in 2022. I noticed at the start that I am not able to run, and people are noticing my waddling gait. With time, I realised that I find it extremely difficult to climb stairs and lose my balance easily. And once I bump into something, my thighs can't support me, and I am bound to fall.

But I'm not giving up, I do things that almost any normal person can, I hit the gym, take care of my body, work, and travel.

My doctors say that the degeneration is very, very slow. And to be honest, in the last three years, I haven't seen the symptoms worsening. They have just been the same.

I just wanted to ask whether there is someone who has ever dealt with this? And do you think that I'll lose my ability to walk as time passes?

How does life look with MMD?

Does anyone have suggestions for getting better sleep? I cannot turn myself in bed, so I am waking up my wife throughout the night to turn or move me. Do people have caregivers to help with that, or are we just trying to be comfortable and make it through the night?

If someone is from India and wants to join our instagram group where there are people having muscular dystrophy, you can dm me Or just comment here if you want to be added.

Hi all I’m new to the community, 23F college kid in Northern California and was diagnosed fairly recently about 2 1/2 years ago with limb girdle muscular dystrophy except it wasn’t until fairly recent that my muscle biopsy came back more specific ISPD related recessive what is former known as 2U subtype. I just switched to UC and my neuromuscular specialist literally said first visit I “won the worst genetic lottery😃” anyhow she prescribed me some medicine for myasthenia gravis but to be frank my condition is progressing quite aggressively just within a couple years. I’m now barely able to walk upstairs or walk long distances or get up from a bathtub without difficulty. As far as I know, there are also no clinical trials for ISPD recessive, limb girdle. Has anyone found anything to be helpful with this rare sub type? i’ve heard of experimental stuff like sugar protein medicine, WBV benefit, bee venom benefits stuff that drs don’t really care to discuss if it’s not federally approved but I definitely am interested in holistic care. Ultimately, I have little to no familial support, and broke on Medi-Cal and food stamps no money even for college tuition and all for what? To be miserable behind a desk to an inevitable wheelchair in like 10 years time? I do try my hardest to stay appreciative most days for the limited mobility I do have left. I’ve tried everything it seems, my health has become a full-time job, I’m exhausted and it’s not even “that bad“ yet / already at almost full capacity. I think I might reach out to MDA about palliative care + services. If you read this far, thank you and if anyone has any advice or kind words, I’d appreciate it. Take care

Anyone on here with MD1 and had a vasectomy? Me and my partner have agreed to not have kids due to his condition and looking at having the snip. However, we keep getting told it's 'too risky' because of his condition. Would like to hear others experiences. We are based in the UK.

I recently had a blood test that confirmed my ferritin level was at 11, which I understand is very low. I would guess this is due to my diet not containing sufficient iron for the past 6 months or so. Leading up to my blood test I've experienced the following symptoms:

Unable to sprint - weakness in legs

Extended recovery time after gym sessions

Extreme weakness in my upper lip leading to difficulty eating, drinking and smiling

General weakness in facial muscles

Please could the good people of reddit let me know if these sound typical of anaemia? I'm somewhat worried that this may be the start of some sort of degenerative muscular disease like MD, but I don't want to overreact. Thanks in advance

I’m 19 years old and was born with both Nemaline Myopathy and Proximal Myopathy (as well as Malignant Hypothermia). Ever since I was little I’ve been fascinated by bodybuilding and muscle anatomy in general. My favorite characters in shows and movies were always the big jacked ones.

I started going to the gym regularly in 2021 when I was 15 years old. It’s been almost 5 years since then and I’m still going, still constant, and still continuing my macros; with so little to show for it. I’ve had to take breaks over the years due to Appendicitis, Pneumonia, and a hernia. Which all took me out for over a month each. Malignant Hyperthermia cases me to not be able to have commonly used aesthetics among other things (like a sensitivity to steroids) so both surgeries were very scary.

I was wondering if anyone here either pursues the gym despite their diagnosis? I’d like to hear about it.

I weighed 95lbs if 2021 when I started and my peak weight was 135lbs (a lot of it was fat due to rushed bulking). Right now I weigh 110lbs ish. I don’t look good in terms of bodybuilding but I was able to make a little progress.

Also, if anyone has questions about how I try to gain muscle I’d be happy to answer.

My son (18) is going through a barrage of tests right now to see what’s wrong. He has always been on the low end of weight. I have always felt something is off.

Symptoms:
Very Skinny - has always been skinny
Very little muscle
Start walking with a gait about 6 mo ago
Recently is unable to stand from a seated position
Recently is unable to straighten out arms
Straightening out legs is very tight

Tests Results:
B12 deficiency
Low folate
EMG/NCS showed muscle concerns
Severe ADHD
Basic blood test all normal
CBC
CMP
CK

Pending tests:
Autism assessment - believe he’s on the spectrum with asbergers
MRI cspine
ANA Cascade
Extended myositis panel
B vitamin panel
Copper
Vitamin E
Genetic testing
Advanced PT appointment scheduled
Nutritious scheduled

There are more questions than answers right now. Neurologist says based on EMG result this is muscle vs nerve related. He believes fixing the B12 deficiency will not fix this issues but has to be done. He started injections this week. Neuro feels MD is certainly on the table now but said it could other things too. He said between the labs and genetic testing they should give us a much better idea of a diagnosis.

I’m pretty devastated. I’m in the medical field and have a lot of broad knowledge, but this area I’m ignorant in. I’ve been advocating for a very long time about his weight with just about everyone including his mom and all doctors dismissing my concerns. All saying he’s just a little different, he’s just skinny and has his whole life to gain weight. I don’t know what the new normal looks like for him.

Not sure what I’m asking here. Maybe if anyone else has had similar symptoms, test results or experiences? What should I be asking?

Hi

I'm a 33F whose 70M dad just got diagnosed with it (no genetic testing for him but based on symptoms). Sadly I have symptoms like muscle/joint pain and weakness/fatigue and I am looking to pursue genetic testing for myself.

I think having a diagnosis could prove helpful in some respects but at the same time, I am worried about the psychological impact of finding out I have this rare disease that will quite possibly shorten my lifespan and make me lose functional capacity early. It's a tough pill to swallow 😥. Also, I know my health comes first and this is probably stupid to even think about, but I worry how it will affect my romantic prospects (I do want to pursue marriage again) and how many men will say rude things or run as soon as they find out I have DM2. Sigh.... It just feels very heavy right now.

Tell me your experiences with getting the genetic testing done?

What types of MD progresses rapidly? 19M in the diagnosis process (having an emg next week) and have a visit to a neurologist in two weeks. My progression have been quite fast. Shortness of breath, symmetrical proximal weakness and some distal weakness in calfs and forearms. I just want to know which types of MD that has a fast progression!!

If anyone has experiences with it or has some advice let me know, theres no wrong answers!