Myopathies

[jmbatgirl]

Hello -

I have been suffering from mild muscle weakness for about 8 years now. The weakness was confined to the proximal muscles. It has been fairly stable and I have been functioning well with my daily activities until 3 months ago. The only other change in the last 8 years is that I developed muscle stiffness 2-3 years ago which is well controlled now with medication. The recent change is the extreme muscle fatigue and pain in the proximal muscles and the muscles around my rib cage and shoulders, and a choking sensation, which developed at the same time about 3 months ago. I noticed that the choking sensation stopped about 2 weeks ago, but the muscle fatigue and pain persists. The fatigue and pain usually occurs only when the muscles are used repetitively, even for short periods of time such as washing my hair.

I had a muscle biopsy 7 years ago which showed angulated grouped fibers consistent with a neurogenic process. However, the neurologists have not been able to link this to a specific disease, and don't know what it means, other than to say it is puzzling. I have tested negative for SMA, mitochondrial disease, and the MuSK Antibody, but was not tested for AChR. I was told the new MuSK test is enough to test for both types of antibodies. I've also tested negative for inflammatory diseases. EMGs are also negative. The doctors say this is nothing that is fatal, and that they will eventually diagnose it after observing me over time. The doctors say muscle diseases are difficult to diagnose, and there isn't anything they can do about the muscle fatigue caused by these diseases. My local neurologist calls it a non-specific myopathy. One doctor at the medical school sees is as a mere "nuisance," but of course he isn't the one trying to do the laundry, housework, personal care, etc. Despite the weakness, I was able to exercise daily, even walking about 1 1/2 - 2 miles a day. Now, with the muscle fatigue, my muscles get fatigued and are painful after I walk even a block, so I am getting very little exercise now. It is so difficult for me to understand this change in my abilities. I was reevaluted at the medical school recently, but for the most part it was just a repeat of the tests I've had locally. I'm just left to deal with this on my own.

Sorry to go on so long but I am wondering if anyone has had similar experiences trying to find a diagnosis, and if anyone has had success in obtaining a diagnosis.

Thank you.

[christy0527]

I also have suffered from similar issues. I can't exercise now or I am extreme pain and I feel like I will fall down. I am actually waiting to get my muscle biopsy to see what type of myopathy I have. There are times I can not get out of bed without help. I am still working but like you I find it difficult to do day to day tasks. Mere Nuisance? I would be furious and look for another doctor. This disease is hard enough without the person that is supposed to be treating you belittling your symptoms.
The found the myopaty with an EMG and I was told that I needed the muscle biopsy but I am scared to get it. I hurt so bad after the EMG I don't want anything that will hurt my muscles again.
I am lucking to have a good husband that helps me.
I guess what I am saying is you are not alone. I wish I could help you.

[jmbatgirl]

Thank you for the post. I know what you mean about the EMGs. I've had so many that I've lost track, and each time I swear it will be the last. The muscle biopsy isn't too bad. Mine was in the thigh. You feel a lot of pressure while they're doing it, but no pain. Mine was complicated because my muscles are small and apparently had shrunk, so it took two tries to get the sample. He had to make a bigger incision and go in deep to get to the muscle. There is some pain afterwards but not too bad, and I limped for a few days afterwards. I think I had to be off work three days and couldn't drive for two. Normally, the biopsy is done on the arm, but my neurologist at the time wanted the sample taken out of the leg because it was the weakest. She said that some muscles will test negative if there is no problem in that particular muscle, so it is important to use the most affected muscle. I think you will be fine with the biopsy, and probably have an easier time if you have it in the arm.

I'm still working, too. Stairs are a major problem for me. I work in a law firm and am in charge of the library there. I have had to let things go as far as getting to the top shelves because I'm afraid my legs will give out when I climb the step stool, and my arms fatigue so quickly when using them over my head. Overall, I do better at work than at home because I sit most of the time at work. The house is a mess most of the time because the muscles fatigue so quickly that I can't get anything done.

I hope everything goes well for you. I'll be thinking of you and please let me know how you are after the biopsy.

Jean

[christy0527]

I have dropped and broken things and feel like my feet are going to give out often.
I just want to find some resources to help. They need to find out if the problem is inflammatory or not. I just want the pain to stop and I want to be able to do what needs to be done with out hurting so much.
I really am glad that I have people around me that care but even if they say they understand I don't think they can possibly understand.

[jmbatgirl]

When I originally sought treatment, the neurologist at the medical center sent me to an occupational therapist, and she showed me things I could order to help me out. I use a shower chair sometimes when I feel weak, and a cart to put my groceries in when I have a lot to carry into the house. I have a foot rest for my desk at work. There are other things I use from time to time. Maybe your doctor can arrange an appointment for you.

I know what you mean about others caring but not really understanding. A lot of times I don't tell people that I have this problem, because they say things like "you don't look sick" or "you're too young to have anything like that." I know they mean well, but age and appearance having nothing to do with it.

Last week the neurologist gave me a medication to try for the muscle fatigue. He said it might work but I would know pretty quickly. I sure did! It is for people with narcolepsy so it is off-label use. I took one yesterday AM and in about two hours was in a fog. That wore off then my head and heart started pounding. I was up all night. So much for that. In December he gave me medication for Parkinson's to see if it would help. I tried it for about 3 weeks. I was so sick that I spent the bulk of my day trying not to be sick so I did very little at work. I finally said enough of that. I know he is at least trying, but I don't need to be worse off than I already am. I just want to know what this is instead of treating symptoms. Probably that is all that can be done anyway, but if they could just diagnose it, I would at least know. I've been looking into going to the Cleveland Clinic. I posted on another neurology site and have gotten mixed reviews. One woman said it was the worst place she has gone. I live in west central Indiana so it would be difficult to get there, but I will give it some thought.

[christy0527]

I live just south of Louisville and they want me to go to U Of K to get some information from a specialist there.
I am just very tired of being sore and sick almost constantly. I find no one understands. It used to just happen sometimes and now it seems like it happens more. People say I don't look sick but I am sick and it makes me angry. I walk slow and sometimes just cry because the pain is so bad. No one understands. I have stairs in my house and that is so dangerous for me. We will be moving soon hopefully to our own house.
I have never heard of the Cleveland clinic but like many things you probably get out of it what you put into it.

[jmbatgirl]

Sometimes the university hospitals are good because they often have several people talk to you and they're more up to date on the research. I know how difficult it is to hurt and feel bad all the time, and I've certainly had the anger that goes along with hearing comments from others. I have stairs, too, but I use them less and less because I'm afraid of falling. Walking on ice and snow is also a problem, which it looks like we are going to have in the morning.

[spea]

It is good to know others out there with the same problem. I think this can be the most misunderstood diseases of all times. You look completely normal, which for someone reason causes everyone to think you are lazy, even Doctors. I don't think anyone can understand what it is like to be terrified that you may encounter stairs and people will give you that look of scorn because you walk up them so slowly.

Unlike the other posts, I have known since I was a child that I was different. I was never able to run or keep up with other children, although I tried. It wasn't until I was an adult, however, that I discovered others in my family had the same problem I had. I don't suffer from pain, just muscle weakness, unstable gait and can fall very easily. I just turned 40 and the weakness seems to be progressing faster than in the past. I feel very unsteady when I walk and it is so scary. I am a professional person and really enjoy working. I also have a young child and I hate that I can't do things that other parents do with their children. I feel very guilty about that. I have been struggling with depression and thoughts of suicide.

I have had all the test I know to have but it doesn't seem to matter. I started with basic muscle test, then blood test, EMG and muscle biopsy. The biopsy was in the thigh, and it was very painful afterward but didn't restrict my activity much. The were elevated levels of protein in the blood, the EMG indicated extreme muscle weakness and the muscle biopsy indicated diseased muscle but the lab was unable to determine a specific type. I was told it was congenital myopathy. There was no treatment or cure and I should stop crying because I wasn't dying. I suppose, if one hadn't spent his or her entire life feeling like they had to hide their secret (the secret that they were some kind of freak), it would be very easy to dismiss my feelings. This is a hard life to live at times; yes, there are much worse things to happen to a person. It is hard; however, to not go up stairs with ease, not to be able to kneel down, to constantly worry about falling or to be given that painful stare, like "what is your problem".

I have tried many herbal remedies but no luck. I don't think there will ever be an easy answer or a Doctor that can offer any help at all.

[jmbatgirl]

Spea,

I understand what you are saying. When I tell people of my difficulties, the response is often "but you look OK." I've gotten so I don't tell anyone anymore. I avoid activities where I might get into a situation where I'll have to lift or climb stairs because it is just too hard to explain to people.

Stairs are a big problem for me, too. I go out of my way to avoid them, and let others pass because I am so slow. I have also struggled with the depression aspect, as this is a lonely condition that others don't understand, and keeps us from doing things with family.

I've gotten the same attitude from doctors - you're not dying so it's not a big deal. One doctor seemed so sincere in trying to help me and said he had to think about ways to help over the weekend, and wanted to follow-up with me by e-mail. I waited, e-mailed, called, and it took months to get any kind of a response. Some tests were finally done (single fiber EMG, more lab work), then I had to beg for results over the phone which were not really explained to me. When I called with questions, the nurse said the doctor didn't answer her e-mails either. Apparently verbal discussion is out in that office. I decided he wasn't worth my time/money and never went back. He's one of the top doctors in the state on neuromuscular disorders, which is frightening given his attitude toward me. My current neurologist is compassionate, but has been dismissing my concerns of medication side effects by saying they don't occur with this drug. I checked with three pharmacists and my internist, all of whom say the problems I was having (extreme nausea, sleeplessness) was caused by the medication. It makes me wonder if some of these doctors are incompetent or if they just think I'm stupid. I'm also a professional and much of my job consists of medical research, so it's not that I'm uninformed on these issues. I did finally discover the cause of the upper body pain - on my own. One of the drugs I was taking, Dantrium, was causing it. The pain started at the same time as I started taking Dantrium, and I told the doctor, but again, he said it doesn't cause it, even though myalgia and back pain are two of the side effects. So, he increases the dosage and the pain gets worse. After almost two years, I got off of it and most of the pain and extreme fatigue is gone. Of course, the stiffness is worse, and there is still the original muscle fatigue, but I will just have to live with it. I just don't trust the doctors anymore and can't put myself through another one.

If you ever need to talk to someone, feel free to post. You are not alone.

Take care.