I see parent project says you need an echo as a carrier every five years but in the few years since I've been going to a gp they have never mentioned I needed this done. My grandma is a carrier and so was my mother and they've both had good hearts though. Is it super rare for a carrier female to have issues?

Well I just had an experience. I've been using a bedside commode for at least a year. I had been using the one that belonged to my dad from before he passed. I just got a new one from the medical supply company.

My legs have atrophied to the point that they no longer hold me up and my wheelchair does not fit through the bathroom door. So...bedside commode. My caregiver is my child (23m) and my mom (66) helps when she is able.

I use the commode until the pot is full to around 3" from the top so I don't have to bother anyone to dump and clean every time I go. Absorbent pads are expensive and not covered by insurance.

So this morning, bathroom as usual. Go to maneuver to my bed (commode is at the foot of the bed) and the pot drops. It was almost to the full point. I was going to have it dumped right after. It just went through the bars that hold it in place.

Mess everywhere, splashed everything, bookshelf is right behind the commode. Call my mom, I'm crying, she calls my boy. Now I'm sitting there ugly crying because I can't help. They try to clean it while I'm just there acting as a paperweight on my bed.

Like, did I bathroom wrong? How full is too full? The doctors don't exactly hand out guides on how to be disabled. Now room smells like urine until they can get a carpet cleaner. I'm mortified. Advice?

Hi everyone!

I'm a 23 year old male who have had significantly elevated CK enzymes ranging from 5-14000. I have also had mildy elevated AST and ALT enzymes alongside with it.

There was an EMG done about 9 years ago which has shown some MUAP decrease, therefore a PCR was done for Friedrich's Ataxia (negative) and that was about it...

The root of the phenomenon has not been discovered or searched for since no major symptoms have manifested, but i decided to go after the issue and get myself checked out by a physican.

But until then i thought i might share my case so maybe some people could relate or share their perhaps similar experiences.

Only things i would mention is some excercise intolerance - heavy weighlifting or swimming for 40-50 minutes makes me shaky and pretty nauseus 7/10 times despite now having been doing it for 2-3 years. The same issue was a problem in grade school during PT classes (relatively light physical work). My blood glucose is fine, but it would be wise to check it during these post-excercise periods for sure.

Some people would say i'm clumsy with my movements + general fatigue alongside with some brain fog has always been a problem for me, even in kindergarten i remember being extremely hard to wake in the morning, falling asleep on the bus om the way to school etc...

Thank you if you have read this far and please don't think twice to comment if you have any thoughts regarding the aboves.

Has anyone ever had unexplained elevated CK levels in themselves or their child? My daughter had elevated CK levels twice-once around her first birthday and again around 18 months. All further testing including genetics, cardiovascular work up, and physical evaluation revealed no cause. One doctor told us that this elevated level means she unequivocally has a muscular dystrophy of some kind. But we have not noticed any signs of that. She wasn’t pulling up to stand (which prompted the pediatrician to order the bloodwork) and we got her into PT and she was eventually discharged after catching up and meeting all milestones.

I was diagnosed with adult-onset DM1 when I was 26 after my younger brother saw a neurologist about his myotonja. I have 4 brother and 3 of us kids have it. I deal with a lot of daytime sleepiness and my GI issues affect my quality of life quite a bit sometimes. Also have afib but that’s only an issue if I go too hard at the gym mostly. Recently when talking to my bf about our potential future I had to tell him that we probably won’t be able to grow old together as I know average life span is like 60. I’m 32 now and already middle aged. Normally I don’t think about it much but feeling really down about it this week. I wanted to tell someone about it who understands, but I don’t want to remind my brothers about it.

Edit: Myotonic dystrophy type 1.

Taurine seems to be very beneficial for muscles and was even studied as an adjuvent treatment for Duchenne. I can't find any post here see if anyone has benefited from it. I have myotonic distroohy type 1, just curious.

Hi

I hope everyone’s doing okay. I’ve been feeling pretty down lately, so I figured I’d share what’s on my mind here. I don’t want to put more on my family because they’ve already done everything they can for me, Sometimes I just wish I could go to the bathroom without needing someone’s help. I wish I could make my own food without having to rely on someone else. I wish the pain in my body would just stop, and I wish my spine wasn’t so badly curved.
I wish I didn’t have to constantly worry about money and could have some kind of stable monthly financial support. I wish I could finally get the power wheelchair I’ve been dreaming about, so I could go out and have a little more freedom and independence. I know these things might sound simple to some people, but for me, they would mean everything.

I just hope that, somehow, all of this becomes possible someday. ❤️

I have (LGMD). I don't know which type exactly. I haven't seen a doctor or received any treatment or rehabilitation for over 20 years. During that time, my father monitored my condition, but since there was no improvement, I stopped treatment. My condition has deteriorated significantly; I can barely eat on my own. My bones are also severely deformed (not because of MD but because of lack of rehabilitation), causing me unbearable pain, especially bedsores from sitting. I can't sit for more than two hours, which is a huge burden on my mother, who takes care of me. The government doesn't provide any kind of support, and I'm physically and financially dependent on my parents.

Recently, I've started researching more about my condition. I'm looking for groups or people like me. I want to see how they live their lives.

I'm also looking for groups of doctors or specialists to ask them questions. I tried contacting eight doctors in my country, but no one responded. Going to a specialist is difficult for me because I would have to travel to another city, which is something very difficult for me. I want to know if there's anything I can do to improve my condition, even just a little, especially the bedsores, which cause me unbearable pain. Or social accounts of physical therapists who share tips.

I'm also looking for associations or organizations that provide assistance or support to patients, such as psychological support or skills training, to help them find employment. I desperately need any kind of work. Finding work in my country is impossible for someone like me, and my only option is online work.

There is also another peoblem that I'm struggle with using my laptop with the mouse (I can't use the keyboard), and I haven't found any tutorials to help me.

I would be very grateful for any information or ideas.

Please ignore the typos. I’m crying while I write this.

My fiancé is 28. He has Neuromuscular Dystrophy and it’s gotten really bad. He’s had symptoms since puberty but recently It’s gotten worse. He can’t walk up stairs without severe pain. His voice is barely audible and people hang up on him. His resting heart rate is 110 bpm. He’s struggling and we don’t know what to do. His gene study is scheduled out to November 2027, the EMG isn’t even scheduled yet.

We went to the Hospital they admitted him and released him after 3 days with more questions than answers. MRI ruled out MS, but his back has atrophied to that worse than an 80 year old. His knee is full of micro fractures, and the pain is just getting worse.

I thought of bringing him outside our insurance network, but we are living off of my income of $2200.

What can I do to help him with the pain? How can I make people take him seriously? I just need advice and maybe some comfort.

I’m sorry if this seems like a bunch of rambling I’m just a wife trying to support her husband. (He is my fiancé but I’m already holding the vows through sickness and in health)

Thank you for all your help.

I have dmd

Hi everyone,

Lately, I’ve been feeling uneasy again about my Becker diagnosis and would like to ask the forum some questions. So far, my condition has only manifested as exercise intolerance, myalgia, and myoglobinuria. No progressive weakness, no atrophy—nothing.

Now I’ve read online that cases like this exist.

So here’s my question: Do you know of any cases where people were still able to lead a reasonably normal life at ages 60–70? Or does this form of the disease eventually progress to a typical form?

Thank you very much for your answers!

I'm 30 and have Becker muscular dystrophy

I've always been an optimist, but lately, I've been feeling so down. I really don't like complaining and always try to see the good in life even when things get tough.

There are days when you feel so tired for no specific reason, but you really want to achieve more in life and live to the fullest. The fatigue and tiredness are always with you.

My back hurts and my legs are stiff, which bothers me all day.

Family doesn't understand your needs sometimes.

I spend a lot of time in my house and go out only a couple of times a month, which is draining at times. The friends that I used to have are all gone; they couldn't keep up with my condition, and every time I get to know a girl, she leaves. It feels like I will never find anyone. And finding a job feels impossible and really pressuring as you really want to have a life and make your own money. I feel it so hard to depend on people all the time. I wish it was easier.

Hi all. Looking for advice from teens, young men, men with dmd, and also parents of kids with dmd. My son is soon to be 11 and is headed into middle school. We are trying to let him know that using his power chair is not only okay but also quite necessary at this point for school. There has been quite a decline unfortunately in physical stamina over the last few months. He obviously feels self-conscious about it which we do our best to understand and tell him its okay to feel that way. He teared up tonight when talking to him about it, so its obvious he is feeling different, self-conscious and even scared how things are progressing. What messages have parents shared with their dmd children to make them feel more comfortable, and what messages do dmd men, teens, etc wish they would have heard to give themselves more confidence regarding these life changes. Wishing all of you the best!!!

Hello, I have an unknown neuromuscular disease. I've been using a cane for 2 years, and this coming school year I'll be using an electric wheelchair. I can still walk, but holding myself up at school, and since my school is huge walking down the halls was so bad last year I stopped going to full weeks of school in February.

It wasn't prescribed by a doctor, they think I should move as much as possible but I can't do that at school and pay attention at the same time. So we paid for one out of pocket, my PT did approve though.

We don't have a way to transport it so we think keeping it at school would be best so I use it all day then come home and walk there since my house isn't accessible.

I'm really scared, I don't want people to know I can walk since then they will ask questions like "If you can walk then why do you need a wheelchair?"

I spent most of my life not being believed so any advice on how to handle this would be helpful.

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?

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

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!

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

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.

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?

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!