I am posting here regarding a possible MD diagnosis. I'll keep this as short as possible. Before Christmas I was diagnosed with a heart condition Dilated Cardiomyopathy at the age of 21. Having done a lot of research I found a link between dilated cardiomyopathy and Duchenne Beckers MD. Having looked at the symptoms I feel there is reason to suspect MD. I have almost every symptom.
From a very young age I always had trouble keeping up with my peers. I was always unfit and out of condition despite being in good shape. As I got older my calf muscles grew spectacularly large, many people got good laugh out of that. Also many gym sessions etc left me in excruciating pain, especially in calf and thigh muscles.
As I got older at around 18 years of age, I literally could not run (not that I could ever run that well) without falling and making a fool of myself while doing so. I felt as though my stamina and agility was diminishing, eventually I was beginning to do this more and more while walking and climbing stairs. Iím finding stairs progressively worse and a few steps without a handrail seems like torture in my head. I have also noticed lately that when I fall I am finding it more and more difficult to get up using a type of gower in doing so, where I have to climb up my legs so to speak. People are also beginning to pick up on the fact that I walking like I have a limp. I get the feeling that all these symptoms are getting progressively worse and these symptom combined with the dilated cardiomyopathy make it look like a case of muscular dystrophy. I have an appointment with a cardiologist in a weeks time again so I will probably mention it then. It will probably result in an appointment for the neurologist. If they donít I would be surprised. I think there are too many coincidences for them not to investigate.
I am posting this however to see has anyone here any experience of these problems or people who have any advice to give at all.
First of all, I am sorry this is happening to you. I have been through the exact symptoms you describe......slow and weak as a kid, then as I grew older i started having trouble climbing stairs, ladders and getting out of low chairs or up from the floor. And yes people don't understand so they laugh or stare.
My name is Mark. I am 49 years old. I have Limb-girdle Muscular Dystrophy. I have spent years collecting data on every known type of MD.
You've done your research well. Here is the data I've collected on Beckers Muscular Dystrophy:
Name: Becker Muscular Dystrophy
Also Known as: BMD
Inheritance: X-Linked (through the mother, usually undetected)
Defective Gene: Dystrophin
Chromosome Location: Xp21
Typical Age at Onset: Adolescent-Adult
Blood CK level: High
Areas Affected: Generalized
Heart Affected: Yes
Severity of disease: Medium
Other Notable symptoms: Enlarged Calves
You might have it already figured out, as did I, long before I went to see the neurologist. Feel free to ask me anything else you might want to know. I'll help if I can. Ask your doctor to check your blood CK level. Anything over 120 is an indication of muscle disease. Mine is usually 400-500.
Good luck to you. Post here whenever. Everybody here has gone through what you are experiencing right now.
Its amazing with this how so many of the symptoms evaded my attention. It was only when I got some heart palpatations that I began to be concerned about my heart, not realising the can of worms that I was about to open. I think it might have been the fact that I treated all the symptoms as separate problems, which on their own seemed inconsequential but by putting them all together you end up with a possible serious condition. Ok, there is always a chance it is'nt MD but if not it surely must be something, as its definately progressing.
Anyway to have one serious condition is bad enough but to add another to the list is well, dissappointing you could say. I do realise it could be much worse and it is that fact which gets me through each day. I now don't take the sort of things a 21 year old usually takes for granted anymore and there is no harm in that. Its all a learning experience but hey that life.
The dilated cardiomyopathy requires me to take medication to improve my heart function. From what I have read the treatment is the same no matter what the cause.
All I can do now is wait and see how things play out. Try and get some tests done (Ck etc) to get to the bottom of this. I think one is better to know the whole story than bury their head in the sand hoping it all goes away. Although I'm sure I'll have days where I disagree with that but sure there will be days like that.
I have since been to the cardiologists appointment. I told him about my thought regarding MD. I listed off some of the symptoms. I showed him my calf muscles and bingo it clicked with him "looks like you have diagnosed yourelf" In fairness it was kinda funny!! He also looked at a few other things. He commented that I walk with a waddling gait. It almost shocked me as I'm really surprised at how few people have really commented on my walk, especially my family. He took a look at me and said that I visible wasting in my thigh area, especially quads. He did a few strength tests that proved my weakness. It seems pretty convincing that I have MD. He ordered me to do a blood test to test for creatine kinase, which I did this morning. I will have the results shortly hopefully. He also is referring me to a neurologist as soon as possible (apparently there is a long waiting list for seeing neurologists here in Ireland). I hope I don't have to wait long. I feel like I've opened a can of worms. In reality the MD has been staring me in the face for years. Its only when I realised it was effecting my heart that I realised how serious this whole thing is. I'd be glad of any opninions or suggestions.
The following user gives a hug of support to DCM1: NP74 (01-29-2011)
Good luck with all of this. Believe me, I understand. I went through just what you are going through. That is.....I KNEW I had MD but it didn't really sink in until I was officially diagnosed. I know it's hard but you seem to be keeping a positive attitude. Always keep the good attitude. It will help you a lot.
I am sorry for the diagnosis, but I admire you for the way you handle it. I couldn't and still can't say the same about myself. I contrary to you and Mark, was taken completely by surprise and knew nothing about MD beforehand. I knew something was wrong, but I thought it was something fix-able. But I guess I was wrong! I hope you can get in with the neurologist soon, waiting is no fun.
Its most bizarre but most of the symptoms have been staring me in the face for years. Its amazing how it takes a serious heart problem to take it seriously. There were times when I wondered why on earth am I in such a bad state, considered maybe going to the doctors, but then never acted on it. It was almost as if I really believed I was just "lazy". Well at least now I know for sure that I was'nt lazy, I have actually done remarkebly well do keep going as long as I did, with weakening muscles and a weakening heart.
This leads on to another question, what to tell people. A part of me really likes to be honest with people while on the other hand I don't want to be treated any differently. I worry about peoples reactions. When I told people about the cardiomyopathy I got very strange reactions from some people. Some were great, were really good with it but some were either disinterested or in disbelief. I suppose telling other 21 year olds you effectively have heart failure is not an easy one. I really don't know what MD is going to do. When a person reacts poorly it actually makes me feel worse not better. I hate when people sound more worried about the thing than I do. I suppose people are all different.
Telling people is the hard part. There's no easy way. But once you blurt it out and they know, then all of a sudden it's much easier. People around you suddenly understand why you are slow and have troubles.
My worst fear, before I told people, was that I would fall down and not be able to get up. Also, friends always asked me why I was limping. I'd say "Oh I'm just tired today". Once I finally told them the truth, of course they felt bad, but they understood completely. My symptoms all made sense to them. And 90% of everybody understood and dealt with it well.
I have since seen the neurologist. I got the result of the CK test and it was high (4800) so that means I'm another step nearer to a complete diagnosis. I am undergoing a muscle biopsy tomorrow and am having genetic testing done aswell, I'm not exactly looking forward to that procedure but I guess it will tell a lot more. The neuro's believe its likely Bekers MD but because some other MDs like LGMD have similar symptoms they are going to keep digging to get a definite result.
On a side note its amazing how much I notice symptoms since I supsected MD. It really is'nt as though it has suddenly gotten worse it has'nt. Things I just took for granted and never realised the things that I just could'nt do normally. Take getting up out of a chair, I have known for ages that I have to gower to get from a sitting to a standing position, but its only since diagnosis that I ever took much notice of it. Nobody else seemed to either. I also noticed lately that I really can't pick anything up from the ground not even my jack russell dog. I remember well when things like that were no problem and thats not even all that long ago.
Another thing was I got so concerned about my weakness that I started cycling before I had even heard of MD. I seemed to believe I was just lazy (People had that impression of me) and never questioned the real reasons. In hindsight that never made sense. I did have some success with the cycling, like I could manage 30 or 40km on the bike in 2 hours, but one thing I noticed was my legs never got any stronger. But what it did do was maximise whatever strength I did have and made me feel much better. Its a great form of medidation if you will. Hills though were a huge problem but I'm lucky as I live in fairly flat terrain.
I've no doubt I'll make a bit more of a contribution around here. I will put in my input into peoples threads from time to time.
I'm posting here as I'm recently diagnosed with distal myopathy, it is still unknown which category. Since 2008 I have noticed that I have problems in walking but they were minimal. In January 2009 I realized that I cannot wear highheels and also have problems with moving my toe. Still not bothering, but in September 2010 it was obvious that I cannot stand on my right heel (or toe) and my calve (right) was noticeably small, then I started visiting neurologists. I have done EMG, blood tests (genetic-tests for MD1 and MD2). I have high ck values and in genetic-tests there were no sighn of MD1 or MD2, I'm waiting for the mussle biopsy appointment.
All I know till now is that there is no effective treatment for this disease and this hurts! I don't want to give up but I'm exhausted by thinking about my disease, picturing myself on wheelchair, etc. I 'm sorry that I'm posting these hopeless sentences but I desperately need some psychological help from the people who have the same problem but somehow can manage to overcom it...
At last I do appologize for my bad english!
Have a nice day,
The following 3 users give hugs of support to: R57 DCM1 (03-24-2011), min446 (03-30-2011), NP74 (03-24-2011)
I am so sorry for your diagnosis, it is a tough one to swallow. You seem to be going through all the same things that I was and still am going through, you are not alone if that gives you any comfort. I too struggle with seeing myself in a wheelchair, and I have been very close to just throwing in the towel and call it good several times. Some of the issues I really struggle with are feelings of inadequacy, failure, and that I am a burden to my husband. I keep thinking that he deserves better, and that I wasn't around, he would be free to marry someone who's body is not broken like mine, and they would be able to do all the things he enjoys doing. My advise to you is to keep posting here, but also see if you can get to see a therapist, I think it might benefit you, also if you keep feeling down like this you must speak to your Dr about it. They are usually pretty understanding, being diagnosed with a chronic disabling disease is traumatic for anyone.
The following user gives a hug of support to NP74: R57 (04-06-2011)
Thank you very much for your supportive messages. Sometimes I feel better to know that I'm not alone in this world but what bothers me is that maybe I won't find a partner of my life, maybe nobody stays with me with my conditions! I'm too much affraid of not having children. I have been always a chosy girl, but now what should I do!!???
I have to say I understand fully how you feel having been diagnosed with this type of condition, its a real bummer. I have been having similar thoughts about meeting someone and having a family etc. I'm only 22 myself and the diagnosis came as a comlplete shock. I also find it hard to see someone wanting to be with me having MD and a serious heart condition, I feel like damaged goods. But I guess we got to hope. I wish I could give you some more useful information, but I hope in knowing that others have similar feelings will make you feel less isolated and alone.
The following user gives a hug of support to DCM1: mandy37 (04-10-2011)
I got the results of the genetic testing and the muscle biopsy. It looks like I have beckers muscular dystrophy. The biopsy supports this. The genetic testing indicates that I have an in frame deletion of exons 45-47 located in the dystrophin gene.
I'm being referred to a physio and a lung specialist for evaluation. Hopefully will know where to go from here.
I'm really glad you have at least found out some answers and received a diagnosis. That's the first huge hurdle in any case of MD.
My definitive diagnosis is still eluding my doctors and me. My clinical diagnosis is MD (because I can't walk or do anything). My muscle biopsy shows damaged shriveled up muscles cells and my EMG shows muscle malfunction. So.....I do have MD but we don't know what kind. It could be a mutation or one of the many types that still have no genetic test.
I'm sorry you have MD but it's great that you have a diagnosis of exactly which kind. Awesome! Thanks for keeping us posted. Good luck with the rest of your testing and please keep in touch!
The Following User Says Thank You to michigani For This Useful Post: DCM1 (05-19-2011)
I appreciate your comments and thoughts. It should hopefully prove useful for me in the future. Its unfortunate that you have never been able to achieve a proper diagnosis. These things can be complex and very complicated, and they vary from person to person. All I can say is I hope everything goes well for you. You have been a wealth of information and most importantly you are very welcoming. It means a lot, I'll be sticking around here. Its good to know others who have similar life experiences. Its very useful.
A few years ago I had to use a wheelchair for quite sometime due to a bad leg injury. What really helped me out was using a motorized one. It helped me be more independent, and not rely on someone to push me around. I could not push myself due to having injured my hands also.
My legs are now getting bad again, and I have been told I have MD. I am waiting for all the test results to come back to be sure. Facing the possibility of using a wheelchair again I will try and get a motorized one even if it is a cheap one. Perhaps you will be able to get one.
Your English is very good! What part of Germany do you live in? I visited Kraiburg, Munich and a small Italian Village in the Black Forest area a few years ago. Germany is very pretty
Last edited by Greetings; 05-19-2011 at 06:04 PM.
Reason: To put name of person whom I was replying to in my reply