My friend’s daughter (3) was recently diagnosed with MFM8. We’re struggling to find any information or any support groups. Does anyone know of anywhere or anything or perhaps someone she can speak with and relate to? Thanks in advance

Edit: I’m so touched by the responses. Thank you all so much. I should have added we live in America, specifically in Arizona.

I just found out last week my daughter has Duchenne’s. I’m all over the place and thinking clearly is difficult. Any guidance in general would be appreciated. For example, I was told to register her on The Duchenne Registry. I’m already unsure if I’m putting my name in for initial registration or her’s. I feel like a mess. Someone else told me to register with MDA. What is that? I’m feeling lost.

For LGMD R28 the drug Mevalonolactone seems to be an outright cure (https://www.pnas.org/doi/10.1073/pnas.2217831120). But where can you get it?

Non-pharmaceutical "lab" grade is all that's available and the cost is very high.

Anyone know how to get this stuff or know of any drug trials?

I am 26 with DMD and have been facing this issue for a couple of years now. Anybody else facing similar problem?

Hi, y’all. My 17-year-old has EDMD type 1. He is aging out of his children’s hospital next year. I’m crossing my ya and dotting my i’s to make sure we aren’t missing things.

I’m curious, for those of you that have been through this transition, what are some things that are important to consider?

Are there any MDA adult clinics around? Any hospital networks in the Midwest we should consider?

Advice wanted-will consider anything relevant. Hoping to prepare my kiddo to take over and I’ll step into a more supportive role, but I don’t want to miss anything. :)

Hello, my 9 yr old son is newly diagnosed DMD deletion 3-7. He has started steroids and his Neurologist is suggesting gene therapy very soon. Everything I have researched says that with his deletion there could be pretty bad risks and that there has not been enough done to boys like him to be sure. Any thoughts or opinions are much appreciated

My 10yo son seemed to develop normally until about 4. He is autistic/ADHD, low muscle tone. Someone suggested I get him tested for MD (he can’t ride a bike). Keen to hear your experience.

Hello,

My little brother has DMD and due to medication is on the heavier side. I want to know if a transfer sling or belt or harness works in a way that doesn't hurt him. I am strong enough to carry him but lifting him from a seated position is difficult with my having to bend down and get a good hold/grip under him.

Thank you.

I’m currently c3/gc1

Hello, all I just wondered if any of you are gamers or know anyone with Duchenne Muscular Dystrophy that game?

Hello! Does anyone have Limb Girdle Muscular Dystrophy 2Q? I have been ill with a mystery muscle disease for 2 years and I had Genetic Testing which showed possible Limb Girdle Muscular Dystrophy 2Q. The Neurologist still does not think I have it, but I think it could definitely be involved. I tried to look up Limb Girdle Muscular Dystrophy and I could not find anything online. I am not sure if it as uncommon type of Limb Girdle. I am going to a Children's Muscular Center as an Adult to see if any of the Doctors there can figure it out.

I struggle with health anxiety, and I’m really worried about my son possibly having DMD. He reached all his milestones on time—he sat up, crawled, and walked when expected. The only delay he’s had is in speech; he started using single words around age 2. My son had a lot of screen time from early on, which led to some virtual autism symptoms and significant sensory issues. He used to be afraid to jump, and his gait was a bit unsteady (although my husband felt it was just normal for his age, saying that every child develops at their own pace). Now he’s 4 years old, and since my father-in-law has a slow-progressing form of motor neuron disease (MND), I worry a lot about conditions like Duchenne muscular dystrophy (DMD). Sometimes, he toe-walks, but if I ask him to walk on his heels, he can do so right away.

He’s been in occupational and speech therapy, and he’s made great strides—he’s now jumping more easily and walking at a steady pace. However, he’s started to mention foot pain and often stretches his foot repeatedly while watching screens. I can’t help but feel concerned about the occasional toe-walking and the discomfort he describes. If anyone could help put my mind at ease, I’d be so grateful 😭😭

*attaching his calves picture

I get really bad headaches from taking vitamin D supplements. I've tried taking vitamin D in all forms and the result is always the same - a huge headache. Does anyone with LGMD or other MD have the same problem?

Hello everyone, I am curious if ALT levels are elevated in different muscular dystrophies, or is that something that is specific for Duchennes? Thank you

Hello everyone, I turned 57 last month. I have been noticing for months now I am losing strength in my arms. I am a big and was strong guy, now I struggle to comb my hair sometimes or lift a roll of bubble wrap above my head, even my lunchbox once it passes my chest is hard. The strength in my legs has also been going and more rapidly now, we have 3 steps to get into my house and I gave to pull myself up each step. Standing is a chore and that's when the pain starts. I am frequently losing my balance or having my knees buckle under me. I don't hurt just sitting around, just when moving. I don't really walk but waddle cause my legs are usually numb from the waist down. I have arranged for a CK test on my own but I do not have health insurance and cannot afford it. Is what I am describing familiar? With no insurance I don't even really know what to do for treatment or even testing. Thank you for any help.

Hello everyone, I’m Udo from Germany. My son is now five years old and has been diagnosed with Duchenne Muscular Dystrophy (DMD). He’s an incredibly self-confident and determined little guy, and I feel that, for his age, he knows an impressive amount and has a wide range of interests. We’ve known about his diagnosis for just over a year, and if it weren’t for that, a casual observer probably wouldn’t notice anything. Since August, he’s been receiving Agamree, and fortunately, he hasn’t shown any side effects so far.

He understands that his muscles aren’t as strong, and often says, “The medicine makes my muscles strong.” I’m amazed at how much he grasps – even though I’m not sure how deep his understanding truly goes. Still, I believe he knows more about the illness and its significance than he can fully express with his young vocabulary.

I think that’s enough for now. I’m looking forward to connecting with others and am open to any tips or ideas! I’m looking for positive, uplifting websites or accounts with videos and stories for my son – outside of the official pages from large organizations. Ideally, from people who are self-employed or successful in their careers and can inspire with their joy for life.

I (female, age 27) got approved to get genetic testing done for OPMD. I'm going Monday but it needs to be shipped out of town and will be 6-8 weeks to revieve my results.

My father (64) and aunt (68) currently are affected by this disease. My aunt is older than my dad and she is more progressed than he is. It's been difficult seeing the progression but this has brought concerns on planning my future so I thought it was time to get tested.

Has anyone here been through this at a younger age prior to symptoms and received their results? How did you react? If able to share I would be grateful to hear your experiences and what helped you come to terms with a positive diagnosis. Any advice?

Thank you for any advice in advance 💜

I have made some progress regarding the use of my mask However, I still can't manage a full nights sleep.

Hello dear community,

I am writing here in the hope that I will get an assessment from you. I would like to know if you think it is possible that I have dystonia. I am female, 30 years old and will have my baby in 2023 and unfortunately had several infections (angina) during pregnancy and afterwards. During the last angina, neurological symptoms suddenly appeared and since then they have been getting more and more frequent. It started with severe tremors all over my body, the feeling of being extremely excited and tingling in the left side of my body. The tingling has completely disappeared again. I have already been examined neurologically in detail (twice in hospital) and nothing could be found. MRI, EMG, ENG, SEP, MEP, cerebrospinal fluid were unremarkable. Only the alkaline phosphatase was slightly elevated.

In parallel, there is now a suspicion of hEDS, but that probably only explains some of my symptoms. I should mention that my father has had essential tremor since childhood, but it is not progressive and does not limit him. There have been no neurological diseases in my family so far, apart from my father's tremor. I had no neurological problems until my symptoms began, it all came very suddenly and within 1.5 years. My doctor suspected something autoimmune, but nothing has been found so far. The CK level is in the normal range. Last December my ANA levels were slightly elevated, but in January they were back to normal.

Here is a list of my worst symptoms:

• Trembling with every movement (it is worst in the morning, as if my body had to warm up first); as soon as I use a muscle, it shakes
• When moving downwards (bending, bending) there is a rattling in the muscles, also called "ratcheting" on Reddit (a kind of active gear phenomenon) in all joints
• Shaky legs, but not always, and at the same time they feel very stiff (worst in the morning)
• Shaky mouth after eating or talking for a long time
• In addition to shaking, I often feel stiff at the same time
• Intolerance to exercise: if I do even light exercises or carry my child, the corresponding part of the body shakes extremely. I can do all the exercises at first without feeling weak. I just shake like crazy. But usually the next day I am even more shaky than usual and it feels as if my whole body is tense or inflamed (as if I had just done some exercise). Very unpleasant. On these days my arm even shakes when I just use the computer mouse or hold my cell phone.
• I recently had to carry a watering can for 10 minutes, after which my hand shook like crazy for 3 hours
• My head shakes after a long day or physical exertion, I have to make a lot of effort to avoid the no-no shaking
• My skin crunches, it feels like I'm stuck together from the inside - when I move, I hear and feel a kind of creaking/crunching sound like an old door (even when my child is lying on my arm and moves, my forearm crunches, so it's not the joints)
• Resting heart rate (desk job) is between 85 and 95
• My limbs fall asleep incredibly quickly, sometimes without being "bent"
• Problems lifting my right foot (neurologically, however, no weakness in the foot dorsiflexor was diagnosed), I have to consciously lift my foot to walk, my whole leg has felt tense for a year, as if the tendons were too short or something; the toes are already bending because they always have to dig into the ground to compensate; I also have muscle pain in this leg and the feeling that it is unstable, when I put weight on it it shakes a lot
• Muscle pain in the right arm, feels as if it is inflamed and stiff, I can also grip more poorly with my right hand and when I support myself with it, it shakes and wants to give way
• When I hold something, my right hand wants to stay in this position (not visible, but I can feel it)
• The feeling as if my wrists are swollen (but they are not visible)
• Muscles burn faster than before the whole thing, as if they were permanently tense
• If I walked a lot the day before, my legs hurt at night
• Muscle twitches all over my body
• Mild gastroparesis and silent reflux

I would be happy if you would give your opinion on this. I'm very worried that there's a serious neurological disease behind it, even though a lot of tests have already been carried out and nothing unusual. Does anyone know my symptoms or some of them? Do you think that would fit with DM?

Came across this great tedx talk by someone with DMD

https://youtu.be/-BQNdC-XV60

As you might see from my post history...I am waiting for my son's genetic testing which will probably be available next week. Has anyone else had the feeling of not wanting to know? I understand knowing is the first step to treatment...but I'm not sure I'll be able to mentally handle his diagnosis. From the day I looked at his bloodwork, I was no longer the same person. Almost as if there is absolutely no happiness. I have no interest in food, I can't sleep, and I cry most of the day. I'm so afraid that when these results come, I won't be able to take it. But there is absolutely no getting around this

Hi!

My name is Samantha Marquez McKetchnie and I'm a PhD candidate at the Boston College School of Social Work. I am also someone who lives with chronic pain.

For my dissertation, I am conducting a survey of female-identified individual between the ages of 18 and 49 living with chronic pain (any diagnosis). Please consider taking my survey or circulating it to people you know who may be eligible.

 Here is a link to the survey: https://redcap.bc.edu/redcap/surveys/?s=4TE7ATCH38TEAFD4

 Thank you for considering!

https://preview.redd.it/cjj03tx6zwxd1.jpg?width=4044&format=pjpg&auto=webp&s=14bd4182cc7da9be0fdccb7f81f4fcd459364b5c

So my lil brother has Duchenne muscular dystrophy . We we’re wondering if anyone who has dmd or anything similar that has had there tendons lengthened. The doctors want to lengthen his tendon because he walks on his toes and not flat footed. I was wondering if anyone had this procedure done or know any one who has we want to know if it would be beneficial to go threw with it or if it would just threw us backwards after sitting in the walking cast and not using his muscular if it will push us backwards.

I’m in my late 20s, and I know I have OPMD because I was tested as a child. My grandmother had it, but from what I understand it was a truly abnormally severe case (it killed her in her mid 60s, she effectively wasted away and died of a pulmonary embolism.). On the other hand, my mom is nearing the age my grandmother was when she died and, if she’s experiencing symptoms at all they’re not visible to me (she’s not the type of person who would want to worry her kids if she had started).

Recently I’ve been experiencing difficulty swallowing, feelings of food being stuck right around my Adam’s apple. Not too often, but enough to scare me. I know I’m young but is there a chance this is OPMD related? Should I see a doctor about this? As I write this it’s the worst it’s ever been (I’ve had the feeling for hours now, in the past it has passed within minutes) and so I’m a bit freaked out.

I'm 17m and tbh I don't find it difficult to breathe at all, and I can pretty much breathe like any normal person ig? Idk I just have a feeling that I'll live much longer than the average age people with DMD pass away, I feel like I'll live to my 40s or even 50s, and with time I'm pretty sure even better medications will exist which will further increase life expectancy

I have been told that I need to get used to wearing a nippy four face mask for at least 2 nights a week for at least 4 hours while asleep as my CO2 levels are too high and I haven't been able to that so far and it's really concerning me and I realise it will help me.

So looks like that's my baby. Genetics are still not done (well, wrong panel was done), thus I don't know yet which gene, and neither which type exactly as the muscle biopsy analysis was also rushed (no staining for nemaline, only looked at cross section). will have a discussion with my gynaecologist now because hormones and menopause, basically this issue here: https://www.neurology.org/doi/10.1212/WNL.92.15_supplement.P5.4-012

Tried progesterone only pill and my muscles basically stopped working. Tried testosterone for reason and also no joy, tried different hormones than the one I've been using for ages (high clot risk, preserve calcium and magnesium levels) and also experienced stronger problems. All fine with my current one. Doctor doesn't want to prescribe it anymore though, due to age 😭 Looks like I do need estrogen, and this specific progesterone though. It looks like most genes involved with these myopathies have a connection to calcium getting stuck in muscle cells through various pathways, leading to tight muscles. My magnesium is always low, and I now know after lots of testing that my body simply uses a lot more than expected. So yeah, even switching to a lower risk contraceptive with different hormones has shown to be a problem for me.

What amount weed or shrooms that I can take with dmd without making my heart go so fast I have to potential go to the hospital what do you guys think 🤔🤔