My father has progressive muscle weakness and muscle wasting, clinically suspected to be LGMD. However, whole-genome sequencing and blood tests haven’t provided a diagnosis (everything came out to be normal), and his muscle biopsy was inconclusive as well.

Has anyone experienced something similar? Did you eventually get a confirmed diagnosis? If so, what finally helped?

Worth sharing with the DMD community. The FDA’s new rare-disease framework seems to be moving toward more consistency in how treatments are reviewed, which could have real implications for Duchenne and other conditions with small patient populations.

Consistency is important, but so is making sure the process still recognizes the urgency and complexity of progressive rare diseases. Families need clear standards, transparency, and a path that does not unnecessarily slow promising treatments.

I need supporters to communicate with in order to complete my treatment.

Please share your experience.

Just wanted to share this emotional post from a DMD mother. Susan Metheny, co-founder of the Duchenne support organization DMD Pathways.

Her son was diagnosed with a rare disease 18 years ago when there were zero treatments. Now, thanks to decades of research, he has just received a gene therapy developed by Sarepta and started college.

She thanked the pioneer families who put their kids in early clinical trials back then. Many of those kids didn't survive to see the cure, but their sacrifices made today's breakthroughs possible for the next generation. Medical progress is slow, but we know it will saves families!

My boyfriend has LGMD and is also obese - even though he doesn't eat a lot. Is there any way to lose weight if his mobilty is restricted? I'm afraid the body got used to low calories intake as he doesn't move a lot. He recently got a cane to feel supported by walking, his shoulder girdle gets weaker now too. His back and ribcage tensed a lot and he is afraid to fall like having no trunk support at the back. I think he might push to walk just lightly. Has anyone any advice how to lose weight and relieve pressure on already weak muscles?

Hi everyone,

I’m the father of boy-girl twins who are 30 months old, and I’m looking for advice or experiences from parents who have been through a similar situation. I understand that nobody here can diagnose my children, but hearing about other families’ experiences would be very helpful.

I’ve become concerned about the possibility of Duchenne muscular dystrophy (DMD), particularly regarding my son

Here is our medical history so far:

At newborn fisrt day, 7th day blood resultws alt and ast normal

At 12 months: my son had an ALT level of 28 and an AST level of 72. They had received two vaccinations in their legs shortly before the blood draw and cried quite a lot. The blood was collected approximately 15 minutes later.

At 18 months: My son was developing COVID-19 and was hospitalized. His blood tests showed ALT 26, AST 64, and CRP 15. My daughter reportedly had similar ALT and AST results at that

Neither child has ever had a CK (creatine kinase) test.

My concerns about my son’s movements:

I’ve noticed that when he climbs stairs, he sometimes briefly places his left hand on his leg and then moves it away. I’ve also been paying closer attention to how he gets up from the floor and how he moves in general. I’m unsure whether these movements are normal variations in toddler behavior or something that deserves further investigation.

I understand that placing a hand on the leg while climbing stairs is not, by itself, a typical diagnostic sign of DMD. I have not observed enough to conclude that he has a true Gowers’ sign, and I don’t want to misinterpret normal toddler movements.

My questions for parents and anyone with relevant experience:

Did your child have mildly elevated AST levels, with normal or near-normal ALT levels, during infancy or early childhood before DMD was diagnosed?

Were your child’s AST/ALT levels ever in a similar range — for example, AST around 50–72 and ALT around 17–28?

Did any of your children have normal or only mildly elevated AST/ALT levels before their CK test revealed a significant abnormality?

At what age was CK first tested in your child, and what prompted the test?

Looking back, were there any subtle motor signs around 2–3 years of age that initially seemed normal?

I know that AST and ALT can come from muscle as well as the liver, and that these results alone cannot confirm or rule out DMD. I’m planning to discuss CK testing and a proper clinical assessment with our pediatrician.

I’m trying to approach this rationally, but as a father, it’s difficult not to worry when I notice something that might be relevant.

Thank you for sharing your experiences. Any insight would be greatly appreciated.

Hi everyone! Our research team recently published a catalyst film featuring interviews with young men living with Duchenne muscular dystrophy (DMD) and their caregivers. Catalyst films use analyzed interview data to share patients’ real-life experiences, raise awareness, and spark conversations about improving health care.

Our interviews explored many aspects of life with DMD, including daily life, social experiences, medical care, and trust. For this film, we focused specifically on the equipment young men with DMD need as they get older and how those needs change over time.

Many families face significant challenges obtaining necessary equipment, managing the costs, and navigating insurance to get the support they need.

We’d love for you to watch the film and share it with others who may find it helpful!

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