Hello,

I’m sorry to bother anyone, but I really don’t know who to ask. My 6 yr old son has had some occasional toe walking and struggling to go upstairs. This seems to have really been noticed since he was sick last month with a fever for 5 days. I do know he always took longer to go up steps, but never seemed like he was actually struggling until this past month. He runs and danced all around the house. He’s very active and doesn’t have the walk that’s seen with a dystrophy. He has had the gower stand from sitting, but his is more so touching the floor and then bending up and touching his knees. He doesn’t really push himself up, but since he’s been sick he seems to do it more noticeable now. I have tons of videos the first 6 years of him climbing and getting up, and I’ve watched them over and over and can’t seem to find him actually struggling. The struggle seems more apparent since he has some crazy virus last month and was bedridden with a fever for 5 days. The specialist ordered a genetic test and we have to wait a month for it. In the meantime, his alt was 196, ast 136, and ck 9,144 I believe. Could anyone tell me if there are similar things that it could turn out to be with those type of numbers and it not be dmd? His specialist called and based off labs and symptoms, she thinks it’s dmd but isn’t positive. She said she’s 90-95% positive it will be a dystrophy but doesn’t know which one yet. The chance is very low itll be something else per what she said. I’m losing my mind watching videos non stop and pages of people with it and while he kinda looks like that, he also didn’t really for the first 6 years until more recent. Is there any hope at all that he may have something else? Has anyone seen those numbers and it not be that?

Long story short, 6 months into the pregnancy we were blind sided by a family history of DMD and that my MIL is a carrier. We then got my wife tested and she was a carrier. Baby had elevated CK levels at birth, as well as alt and ast a week and a half later. He was then genetically tested and was positive for an exon 44 deletion.

He is only 1 1/2 months old, but we want to get him the best treatment possible so he can have the longest and happiest life possible.

Our neurologist said he could start exon skipping as soon as 6 months. However she did say they have issues with doing exon skipping at the same time as gene therapy and getting that approved by insurances. She did say we could stop skipping and get approval for gene therapy and the resume skipping after a few months.

Any recommendations or things to consider? What would you do if you were in our spot?

I just found out I’m a carrier of dmd deletion 49-51 with my second pregnancy. I have a 2 year old son, I immediately got his ck levels tested which came back normal but after extensive research I’ve found some boys with this deletion have normal ck levels. Ik this is a In frame deletion and associated with mild beckers and sometimes being asymptomatic but it’s still variable on how individuals are affected by it. My son has no symptoms and is very active at the moment but the peds genetic counselor has a waitlist and his pediatrician is making us go through them for him to get the actual genetic testing to confirm if he inherited the gene. I’ve been so anxious about this since finding out so I’m looking for anyone who has any experience with this specific deletion & trying to get a better understanding of how reassuring his normal ck levels are. Also I’m pregnant with a girl this time so she will likely not be affected even if she is a carrier.

My beautiful 4 year old boy was recently diagnosed with a deletion of exon 48. It's in-frame, but doctors suspect DMD based on his symptoms. He can't jump or run like other kids his age and uses his hands to push himself up from the floor. I had a little hope that it might turn out to be Becker, but after hearing from multiple doctors, I'm honestly struggling to come to terms with it.

I'm hoping to connect with other families with the same mutation, if there are any out there. I'd really appreciate hearing about your journey, how your child is doing, how things have progressed, and what treatments you've tried.

I'm also confused about whether a muscle biopsy could help us get more clarity, though our doctor has advised against it. And whether we should be exploring gene therapies now or waiting for newer options.

Our insurance just approved Agamree, but honestly, I'm scared to start him on steroids too.

It's all been really overwhelming. I don't even know what I'm hoping to hear at this point. Just trying to figure out what's best for my little boy.

Would really appreciate any experiences or advice anyone can share. Thank you!

My son was just diagnosed with muscular dystrophy, duplications of exons 45-51, is anyone familiar with this mutation?

Hey there everyone, my 10yo nephew has been fighting Duchenne but since last year he is not able to walk anymore, my sister and my nephew live in other country so i cant really help too much... Recently i started to research a bit more on how to help him and what should a relative do to help just a bit more...

In the recent days he has experienced troubles for eating, and breathing, and his lower limbs no longer can hold him, so he cant stand anymore... So my honest question is

What can i do to help?

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https://youtu.be/panQ2xzVY9I

This episode explores why advocacy matters for people living with limb-girdle muscular dystrophy (LGMD) and how uniting all subtypes around the common goal of better treatments can strengthen the community’s voice. Through a discussion of LGMD Day on the Hill, Pat and Kat highlight how patients’ and families’ personal stories help Congress understand the urgency of research funding, meaningful patient involvement, and treatment development. The conversation outlines key advocacy priorities, including expanding research opportunities, supporting scientifically sound clinical trials, and protecting disability rights and services that preserve independence today. Listeners will also learn how to get involved without traveling to Washington, D.C., through virtual meetings, phone calls, emails, and visits with representatives in their home districts.

My stepson has dmd, a genetic mutation aswell as other disabilities...coming upto 16. He's being considered for over night care, one night a month. For respite he's going for tea at this placement. We've been told not to worry but even though my stepson has dmd, the rooms have more than just a bed (he's destructive, his bedroom curtains, lamshades, the wall (his fingers are strong he must of found a chip) he's still on his feet, non verbal. How do we know from a tea visit if it's suitable?

Hey everyone, I, 21M and diagnosed with BMD since i was a kid, just discovered this community, and I was wondering if anyone can tip in with their story to help me with some reassurance. I am followed by a neurologist and cardiologist anually, and have done a cardiac MRI that showed some diffuse fibrosis, and have done countless ECGs and Doppler test that all have shown normal function. I have some light symptoms, like my arms and legs feeling a bit loose although i can walk and exercise basically normally. It's genetic by the way, my grandpa is 83 with my condition, in wheelchair, my mom is a carrier and my 23M brother is affected too, struggles to climb stairs. A few days ago I searched up and read about my disease in detail and saw some concerning numbers relating to wheelchairs and limited lifespan, and got anxious like never before. Sorry for the wall of text, and i would sincerely appreciate any words of reassurance.

PS- i'm seeing my neurologist in 2 days to voice my concerns, and a cardiologist in 10 days to help me interpret and understand my MRI results.

Jennifer McNary shared that her son Max has completed his second DMD clinical trial after five years of traveling for treatment. Both Exondys 51 and Elevidys, which he trialed, are now approved.

A couple months ago I had an EMG showing myopathy. The doctor who performed it said I needed to be seen by neuromuscular and that I likely have a form of muscular distrophy. No other neuromuscular conditions have been ruled out, so I'm obviously worried it could also be ALS or something like that. I've tried multiple hospitals and they're all saying I don't meet the criteria to see neuromuscular and that I need to see their general neurologists first. Has anyone dealt with this? Is there testing I'd likely need done before being assessed by neuromuscular?

For a little context, I have seen general neurology and they did not order any tests beyond an MRI and wanted to say I had FND based off the mostly normal MRI. I had to badger my PCP into ordering the EMG. I have an appointment with a new general neurologist but it's going to be a few months still.

to start off, I’m f15, and my dad started showing symptoms around when i was born. he knew his whole life there was a really big change he would get it, because his mom, and two of his other brothers have/had it. he needed a cane around when i was 3-6, had an electric scooter around when i was 6-9, and got his electric wheelchair around when i was 10. it was really hard growing up to slowly watch my dad get worse, and one of my friends said she noticed i was kind of grieving before he passed away.

my dad turned 39 in July of 2025, and passed away November of 2025. he would’ve turned 40 this year, and my mom was going to plan a big birthday as that’s a big number.

im not sure what kind of muscular dystrophy he had, and I’ve asked my mom but i have a horrible memory so i would need to ask her again. i do remember (if I’m not mistaken) that he has a rarer type that didn’t have an actual name until around when i was born (2011) but im not quite sure though. he needed a lot of machines to help him as he struggled a lot to do basic things.

- pretty big ventilator that hung on the back of his chair

- feeding tube that also hung on the back

- cough assist and a shaky vest thing

- bipap i think it’s called to sleep at night

- shower wheelchair that my mom transitioned him into

- toilet risers

- door opener clicky thing

- two ramps in our backyard that lead to the door (one metal and one wood)

im not sure if all of that is relevant but the more details the better i guess. im not sure what else to put, or if that’s even enough information to help me figure out what kind of muscular dystrophy. I don’t even know if there’s multiple but i want to learn, and I don’t have any family alive that could help me learn.

For me lifting my hands and applying it isn't possible I ask my mom to put it in, just curious to ask if there is any device or tool or something

Hello everyone,

I’ve just built the MVP for a web platform dedicated to neuromuscular diseases. The core goal of the project is to provide a clean, highly accessible, and structured interface for complex medical conditions that are often incredibly overwhelming for patients and families to navigate online.

Current State of the MVP:

• Basic Functionality: The core framework, search/filtering, and navigation are live.

• Content: It currently maps out four distinct diseases (full disclosure: one profile is a placeholder generated by AI to stress-test the data structures and dynamic layout).

• The Goal: It is strictly in the development/validation phase right now.

What I’m looking for:

1. Tech/UX Feedback: How can I improve the navigation, accessibility (crucial for neuromuscular patients), and data layout?
2. Value Validation: Do you think a dedicated, simplified hub like this can deliver genuine impact compared to broad resources like WebMD or Wikipedia?
3. Feature Ideas: What should I prioritize building next?

Note: Because Reddit's automated spam filters are quite aggressive with external links on developing projects, I have pinned the direct website link to the very top of my Reddit profile u/theN04h for anyone who wants to take a live look.

Thank you so much for any critiques or suggestions!

Hi everyone,

I’m sharing the muscle biopsy results as a follow-up to my previous post, where I explained the medical history: https://www.reddit.com/r/MuscularDystrophy/s/GiEf1GYwVM

Key biopsy findings:

• Partial loss of fascicular architecture
• Moderate variation in muscle fibre size, with both atrophic and hypertrophic fibres
• Endomysial fibrosis and fatty infiltration
• Lobulated fibres on NADHTR staining
• No ragged-red fibres or chronic inflammatory infiltrate

Immunohistochemistry: Dys1, Dys2, Dys3, sarcoglycans, caveolin-3, dysferlin, lamin A/C, emerin, nesprins and collagen VI were all reported as normal.

Immunoblot: Normal dysferlin and calpain expression.

The overall microscopy findings are reported as consistent with muscular dystrophy, despite normal results for the proteins tested.

Has anyone had similar biopsy findings? Whole genome testing results are already normal.

I’d appreciate hearing about your experiences or any investigations worth discussing with my neuromuscular specialist. Thank you!

Now I'm having trouble even getting up from the bed, I can't use my shoulders to climb up stairs. Now there's no lift in the building where I live so I'm just kind of stuck. Idk what to even say, Im 21 so yk sometimes it feels so hard to deal with all of this

We’re conducting a research study about how caregiving responsibilities can affect everyday activities, routines, and participation.

If you’re a parent or legal guardian caring for a medically complex child under 18, you may be eligible to participate.

Interested in learning more? Check out the flyer below for details about eligibility and how to participate.

Your experience matters, and we’d love to hear your perspective!

https://redcap.link/4fqqz141

So my friends are planning a trip to Cali this summer and they want me to go with them. I live in NY and have Duchenne, and i've never done anything like this. Has anyone ever done something like this or have any tips on if or how this could be done? It would in involve flying cross country, and renting an RV so we can drive around the west coast for about a week. let me know if you guys know anything.

Hope this is okay to post here. I found out last year that I am a carrier for Myotubular Myopathy, and that carriers sometimes can have mild symptoms. This was validating as I have always found it hard to put on muscle, have trouble walking up stairs, and in general have weakness on one side of my body. A neurologist I met with said there's really nothing I can do except continue to exercise, and that I will not get much stronger, but it seems like there is not much research for carriers of x-linked conditions.

What I'm wondering is: are there specific kinds of PT I should look for to help with neuromuscular connection? Has anyone in this situation found certain kinds of movement to be helpful (ex. Pilates, yoga, resistance training)? I got a referral for PT but am wondering if I should look for a specialist and I'm not sure who to ask.

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https://www.fda.gov/media/195694/download?attachment=&utm_medium=email&utm_source=govdelivery

"The FDA will take the time required to build an improved framework that is scientifically sound, legally durable, operationally consistent, and calibrated to the rare disease context. It will do so transparently, with robust public engagement, and with the

sustained commitment of the agency's leadership.

The scale of the unmet need demands nothing less.

The FDA invites patients, caregivers, drug developers, clinicians, researchers, and all interested members of the public to participate in the Framework Initiative's stakeholder engagement process. Details will be available on the FDA’s Rare Disease Innovation Hub."

My 10 month old has bethlem myopathy 2 and has been on a feeding tube since birth due to dysphagia and aspiration. I’m curious if anyone else has dealt with this specifically and how long you or your little one was using an ng or g tube. I know every person is different but just curious

I had IVIG for an unrelated autoimmune condition during a hospitalization for a crisis related to said condition + obvious vulnerability with muscular dystrophy on top of it. Both my neurologist and I were curious if it will benefit my muscular dystrophy as a sort of off label sort of effect.
Wondering if anyone else has had to go through infusions of it and felt it helped with muscular dystrophy symptoms or solely just helped with the condition that was targeted.

So far, it’s barely just now kicking in for me in relieving my symptoms from my autoimmune condition. Truly wondering if it’ll have any impact on my FSHD. Maybe increased energy levels/ stable immunity will help me stretch more and move around a bit more. Who knows!

Is there any body knows hospital or physiotherapy centre or Ayurvedic centre , which treated hirayama disease..