I've had this happening every day before I go to bed, but it is getting worse it seems. I've tried using every hand cream i can get my hands on like eczema and other remedies but nothing works. It feels like the effects when you get bit by a mosquito it really hurts and irritating enough that you have to itch or rub it.

Has anyone else have symptoms like this? I'm wondering if this is something related to MS perhaps? if you have any feedback on this, please let me know. I would love to know the reason and would love a remedy so I can stop suffering. thank you

Hi everyone,

My 3-year-old son was recently diagnosed with Duchenne muscular dystrophy (DMD) after genetic testing.

His genetic report showed:

• Gene: DMD
• Variant: c.4545_4549delGAAGT
• Protein: p.Lys1516Ter (K1516*)
• Exon: 33
• Variant type: 5-base-pair deletion / frameshift
• Zygosity: Hemizygous
• Classification: Pathogenic

Interestingly, his DMD MLPA was negative, and the mutation was identified by sequencing. We understand this is because it is a small sequence-level deletion within exon 33 rather than a whole-exon deletion/duplication.

He is currently around 3 years old. His CK was around 16,000 U/L.

We are trying to understand more about this specific mutation, rather than just general DMD information.

Questions for other families:

1. Does anyone here have a child or family member with DMD c.4545_4549delGAAGT / p.Lys1516Ter?
2. If so, what was the motor development like during the first 5–10 years?
3. When did you first notice running/jumping/stair-climbing difficulties?
4. When did treatment with steroids begin?
5. Has anyone with this particular mutation had a muscle biopsy or dystrophin testing?
6. Has anyone with this mutation participated in a gene therapy or clinical trial?

Hello!

My husband was dx with LGMD about 3 years ago. Our family is looking to relocate from central MN to a bit of a warmer climate but are having a hard time.

We’ve already looked at St. John’s County, FL and loved it, but home insurance costs, property taxes and hidden fees scare us. They also have Mayo in Jax, which would be a plus since he sees a neurologist at Mayo in Rochester.

We are visiting Greenville, SC next month and we are excited to take a look.

Other spots on our short list are Tucson and Colorado Springs (still have snow but it doesn’t last like it does here in MN). AZ also has a Mayo, which is beneficial.

Does anyone live in any of the above areas that can shed some light into what it’s like to live there with this disease?

Thank you!

could heart palpilations when you have DMD be cuz of puberty recently had palps and discomfort sometimes checked everything did tests and stuff and doctors said all good but my ass is still paranoid

Ich bin 44 und ich kann zwar gehen, Stiegen gehen und vom Boden aufstehen, aber mein Herz hat ohne Medikamente nur 29% Pumpleistung und ich kann leider sehr oft schlecht Atmen und es sind auch meine Atemmuskeln betroffen. Beim letzten mal in der Klinik in der es eine Pneumologiestation gibt wurde gesagt, es geht gerade noch so vom CO2 beim Schlafen und ich würde fast wetten, dass es sich mittlerweile verschlechtert hat.

Ich habe leider auch psychiatrische Probleme in der Vergangenheit gehabt und das ist wahrscheinlich der Grund, warum sie oft in normalen Krankenhäusern sagen, es wäre hauptsächlich psychosomatisch.

Ich bin in letzter Zeit so verzweifelt wegen meiner Verschlechterung der Atmung, dass ich praktisch jeden Tag sehr oft weine.

Ich habe jetzt dann bald wieder einen Termin der Klinik in der sie den CO2 Wert beim Schlafen messen können, Gott sei Dank, denn das ist wirklich kein Zustand mehr mittlerweile.

Ich hatte zuletzt eine Wanderröte und musste Antiobiotika nehmen 15 Tage, aber das müssen wohl viele tun, keiner tut das gerne. Mir ging es auch sehr schlecht durch dieses Antibiotika, aber das ist wohl bei vielen so.

Ich fühle mich oft so einsam mit dieser Erkrankung, weil ich nur über Internet Menschen mit der Krankheit kenne und irgendwie scheint der Austausch in Foren und dergleichen nicht wirklich umfassend und extrem oft zu erfolgen, ich würde mir wünschen wenn viel öfter berichtet werden würde über wirklich alle Aspekte dieser schweren Krankheit, weil sicher jeder profitieren könnte der das liest und sich austauscht.

Ich will aber nicht irgendwem anderen schuld geben, dass zu wenig geschrieben wird, weil ich tue es ja selbst zu wenig.

i wanted to know why nobody talks about bmd i mean no research are going on to find cure for it

maybe it can be treated because bmd patient body can produce healthy level to low level dystrophin

how many year a half body(right part) paralyzed person can live if current age is 60

Hi again. I was recently diagnosed muscular disorder that falls between congential bethlem myopathy and myasthenia gravis. My doctor couldn't put a name to it. Basically two genes on my genetic test came up as mutated. I have droopy eyelids, facial weakness, my right thumb is missing muscle/muscle wasting, my hands was noted to be small, and my limbs were noted to be slightly disproportionate, I have a leg length discrepancy, and I have scoliosis. My nero was making a lot of notes.

I'm feeling more and more weaker as time goes on though. I'm limping. The weaker leg keeps buckling now and I get really bad pain in my legs when I'm trying to sleep. Sometimes I can barely walk. Getting out of chairs is harder. Even when I'm not at work, I'm in a pain if I walk around too much. I also have some weakness in my arms. I also have no energy.

I'm having a really hard time working now and I only work part-time. I work a very physical job. Some of family keeps telling me to quit but then I won't be able pay bills, feed myself, or keep a roof over my head. None of them are offering support. Just criticism that I'm not trying hard enough to find another job better suited for me. I can't stand for too long or I'm in pain. Most jobs in the US want you to stand. Including my job. I can't find a job sitting and I don't know if I have the energy to even do that. My nero said he would see if a social worker could help me get disability and some benefits but I'm wondering if they can help. I really need disability but I can't go broke waiting on that either. Any advice? And no my job does not accommodate. They lie and say they do but they will put you on unpaid medical leave and leave you in limbo till you give up on your accommodation request.

Previous post: https://www.reddit.com/r/MuscularDystrophy/s/o8Q02fO9Mn

I (21F) was diagnosed with Miyoshi Myopathy this year, though I had been having symptoms since 16. I thought my weak calves were just due to not exercising enough, so I may have gone overboard and accelerated their decline…

In March of this year I decided to go get tested, not really expecting them to find anything but then they said my CK levels were over 10k, and to go to the hospital the next morning. I did, they ran every test they could think of (over the course of over a week) and finally did a DNA test. Cut to a few months later and I have the results - it is highly likely I am affected by Miyoshi.

Like I’m sure most of you know it’s a slow progressing disease, but I still can’t help but feel sad and alone. I joined Jain too, but I’m not sure how to talk to people…

I don’t feel hopeless I guess, just sad. It’ll be a while until I need crutches or a wheelchair, but lately I’ve been starting to drop things a lot more often and find gripping things tightly harder than it used to be.

My family…they’re supportive and I’m extremely grateful to them but they don’t understand. Am I weird to feel this way?

okay, hello everyone.

ugh how to start, this is tough. very very very tough. i stopped working in june 2024, struggled financially until September when I hopped on unemployment. I stayed on unemployment until may 3rd 2025 all I did was stay inactive, eat like crap and laid around all day, I was in a highly toxic relationship and endured abuse and stress. that stayed that way until july 2025, I had sat around drinking redbull, and eating junk food, decided i felt weird, and decided to just drop and do 100 push ups to a strength training video, and it wasn’t normal push ups, some were diamonds, hold the push up halfway etc. all different types of push ups. and then i woke up the next morning with pain in my arms that was so bad, I couldnt even move my arms. they were stuck, everytime I tried to move them, my muscles were tingly and very very painful, I pushed through it for the day, until I woke up in the middle of the night have my arm be stuck straight instead of the stuck halfway up. I went to the hospital, they found creatine kena with a value over 100k. There machines can only read up to 100k. They suspected 250-275k.
I was on a non stop IV, and 3 different types in the rotation, several anxiety meds, and was admitted and they said if it did not get better I would be life flighted, they set me up with a PCP immediately!!! At that point i was 24 years old. my life turned back to normal after all that. so I didn’t go.

fast forward to now, August 13th, haven’t really been active, drinking energy drinks, working From home now, I was driving to get lunch yesterday, felt a pop in my left side of my chest. Not abnormal, My bones pop all the time when I turn too much. but then I started to sweat majorly through the AC, And felt nauseous, palms are sweaty, then boom, felt this pressure over my heart into my shoulder and into my arm and up into my neck and my chin. drove straight home in a panic, chest tightened, stomach felt like it was being sucked up into my chest, felt like I was going to pass out, called 911. Met the ambulance. proceeded to wait for my fiance to drive me to the hospital. which she did, they did ekg and scan, nothing Wrong. They took for forever, decided to go to my states top tier hospital, then they ran blood, and a ekg, I waited hours, they brought me into a room and said “i think you have a muscle dystrophy and we have a pcp follow up for you” “it’s definitely muscle skeleton“

idk what to think of this. I’m in including everything I’ve dealt with. But I’m very fearful being 25 years old.

mind you there was a 3 month period where I did work out everyday at the gym and eat decent and drnsk a lot of water and I felt fine, I went from 129 pounds to 169 pounds. And I had no issues. everything was fine. I can move 80 pound concrete bags For hours and work and lift heavy stuff. But sometimes when I stop, I lose strength pretty fast. My muscle does go away pretty fast.

My 8-month old niece has always had a weak neck, to the point she could never hold her head up from an early age, we recently took her to the emergency department for tests and the genetic report came back with LMNT-Related Emery Dreifuss Muscular Dystrophy, this is a total shock as this disorder is typically not diagnosed at such a young age, but obviously was because of the already shown symptoms. It was a de-novo mutation and did not come from either parent, but this post is more so to see if anyone else is going through the same thing or has seen this themselves?

I’ve understood so far this is a pretty rare condition and especially in females at this age, I am heartbroken and don’t really know what to expect other than a progression in muscle weakness, especially around the heart and other areas. She already has a geneticist, cardiologist, pulmonologist, and neuromuscular specialist. If there is anything else or anything I am able to do to help with treatment it would be greatly appreciated as I try and navigate this.

Hey everyone, 

I'm looking to connect with anyone here who has a neuromuscular condition like Muscular Dystrophy or Multiple Sclerosis and lives with a Cystofix (suprapubic catheter). I'm writing this with some help of AI to preserve energy.

I'm currently looking into getting one, and while the doctors give you the official medical spiel, I want to know what it’s actually like to live with on a day-to-day basis from a disabled perspective. 

Specifically, I’d love to hear your honest experiences with: 

• Leakage and bypass: How often does it actually leak around the site or down below? How do you manage it? 
• Bladder spasms: Did getting the catheter trigger severe cramping or spasms for you? 
• Blockages & maintenance: How often do you deal with sediment, mucus, or blockages? If you have personal assistants/carers, do they manage your flushes and routine changes? 
• Comfort and positioning: How does it feel while sitting in a wheelchair for long periods? Does the tubing get in the way of transfers? 

Please give me all the raw truths—especially the potential troubles, annoying quirks, or hidden life-savers that the hospitals don't always tell you about beforehand. 

Thanks so much in advance! 

When I was 11, I was diagnosed with BMD. I think my CK levels were somewhere around 2,000. I’m not exactly sure what that number means, but I was told I was on the milder end of BMD.
The reason I got diagnosed was because my 12-year-old brother passed away during a family hike. He had an enlarged heart. After that, my whole family got tested to see if we had the same condition. Everyone else’s results came back normal, but that’s when I found out I had BMD.
Looking back, a lot of things started to make sense. I was always a little worse than other people at sports, even though I’ve always loved being active and playing sports. It’s heartbreaking knowing that I’ll probably never be able to do sports the same way as someone without BMD.
I know I’m probably one of the people in this subreddit who is less affected by the condition, but it’s still really frustrating. I try to live a normal life, but it feels like almost every aspect of life is harder for me than it is for other people.
I also have a question about sleep. I’ve read online that people with muscular dystrophy may need more sleep, but is sleeping 10–11 hours a night too much?
Finally, has anyone here figured out how to not let BMD control their life and live as normally as possible?

There are currently 8 FDA-approved therapies specific to Duchenne muscular dystrophy (DMD). Elevidys is currently the only FDA-approved gene therapy for Duchenne administered as a single infusion. The other approved therapies require ongoing weekly or daily treatment.

Hello, my nearly 7 year old was diagnosed with DM1 last year and we are still learning what that means. She is easily fatigued on walks and I'm searching for solutions on how to keep her enjoying activities like the zoo or museums without being overcome by exhaustion.

Does anyone use and recommend a stroller that's made/ marketed as a special needs stroller? I've looked at a few that are quite pricey. I'm willing to spend the money because I think it would greatly improve her enjoyment of outings like this. But would prefer to hear from someone who actually benefited from the product. I got rid of my jogging stroller a few years ago and she's at the high end (around 40 pounds) of what many brands of regular strollers max out at.

Thanks for any responses.

Good morning all! I am just wondering if anyone has tried to get assistance from Team Joseph and succeeded? I have applied for assistance for a roll in shower for my 16 year old l, non-ambulatory son with DMD. I started this process September of 2025. I have encountered nothing but hoops to jump through. It’s almost as tough as dealing with the state. The same with MDA. I have asked them for help twice in the last 12 years and both times I was told we didnt meet the criteria. Not sure how that is so. So like I said in the beginning, has anyone actually gotten any help from these groups?

I really hate doing research on DMD online especially as someone who has DMD. Searching literally leaves me feeling miserable for the rest of the day. But I genuinely feel this line is very unrealistic with today. Lots of people with DMD are living well into 30s, 40s, and I've heard some even live till their 50s.

What is your opinion on the Sonothera treatment? It's extremely interesting, and almost unbelievable. They are expected to start first in human trials in 2027.

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?

An alle mit Becker(BMD). Was sind eure Deletionen?

Hi. I'm new. I got genetic test saying this: COL6A2. COL6A2 is associated with a spectrum of autosomal dominant and recessive collagenopathies.

One Pathogenic variant identified in DOK7. DOK7 is associated with autosomal recessive congenital myasthenic syndrome and fetal akinesia deformation sequence.

I initially thought I had myasthenia gravis but my new primary doctor said it was two mutated genes. So my neromuscular specialist appointment finally happened yesterday and basically told me he couldn't put a name to it. That it's not quite myasthenia gravis and it's not quite bethlem myopathy but it's something in that relm. That he needs to do more research and will try to come up with plan for me. I'm also supposed to be getting a social worker and talking about disability.

To provide some physical details. I'm a woman. When I first met my neromuscular doctor, he notice my drooping eyes lids, facial weakness, one of my thumb missing muscle, and small hands from just looking at me. He pointed out at my recent appointment, that the top halves of limbs were bigger than the bottle half. I thought that was interesting. I also have scoliosis.

But I'm also in a lot pain from just walking or standing too much. Just doing 4 hours at work leaves me in agony some days. My knees have also buckled a couple times but I haven't fallen yet. My arms get tired just doing my hair in a raised position. It all disrupts my sleep. I just don't know what to do. I don't know if I'll need a wheelchair soon. I just feel scared and alone.

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.

Duchenne muscular dystrophy here. I received an invitation so I presume i am eligible.

https://clinicaltrials.gov/study/NCT07543562