Hi, my name is Debbie. I was born on 1969 and it wasn't until December of 1995 that I finally got a diagnosis of Multicore/Minicore Myopathy. All of this was so new and exciting to me, to actually have a name for my condition, after all of these years of being told that there is no name and there's no way of finding out what it is. Also, my husband Jim and I are considering having children some day and having very weak muscles as I do, I have a lot of concerns about taking care of a child on a daily basis and the possibility that this may very well get passed on to them. I also have something called "Congenital Fiber-Type Disproportion" which from what I've been told is more of a symptom of Multicore than an actual disease, so I am very interested in finding out which of my problems are common among people with one, or the other, or both.

Let me start by telling how I recently came to get diagnosed. At the beginning of 1995, I found out for the first time that there were about 40 different varieties of Muscular Dystrophy. After reading some information that the MDA (Muscular Dystrophy Association) sent me, I thought that maybe it was something called Central Core Disease. I got in touch with the MDA again and they put me in touch with one of their neuromuscular clinics at Johns Hopkins Hospital in Baltimore, Maryland. In March, I had a very thorough exam. Then they set me up to have a muscle biopsy in the middle of May, which was done (which I did not enjoy). In July or August, I was told that I had something known as "Congenital Fiber-Type Disproportion", which as I said previously, is more of a symptom than an actual disease. Unfortunately, it happens to be a symptom to many different muscle diseases, so the search wasn't over yet. They ran a lot more tests on my muscle sample and it wasn't until a few days before Christmas 1995 that the doctor told me officially that I have a very rare muscle disease called Multicore/Minicore Myopathy. Although I know that there isn't anything that could be done to cure it, I was still so relieved to finally have a name for what I have had all of my life. I was so tired of always telling people, that asked me what was wrong, that I didn't have any answers. (Of course, no one has ever heard of Multicore or Minicore but at least there is a name now). After I found out, I went out to some good medical libraries, in search of as much information as I could get.

Now I'll get down to the "real details".............................

PERSONAL VIEW - What I have been told all my life is that I was born without hip sockets and that I have a muscle weakness/lack of muscle tone. The hips were the doctors main concern, and so the muscle weakness was never looked into very far. One of my doctors had told my parents in the beginning that it was possibly some type of non-progressive Muscular Dystrophy. It was never pursued any further at that point. Every few years my sister and I would go in for x-rays of our hips and the doctor would have us get down and back up from the floor, and have us push against his hand to see how weak our muscles were and how they worked or didn't work. Another doctor who worked with us suggested that it could possibly be Myotonia Congenita. From what I have read about Myotonia Congenita, I was quite sure that-that was not what it was; I have no idea why he thought it was that. I feel that the doctors never truly understood what our limitations were/are and didn't question it in great detail. My whole life I have just accepted what I have, since I thought that the doctors had done all that they could; little did I know that there were all of these tests that should have been done years ago.

FAMILY HISTORY - I am the youngest of three girls. My oldest sister, Karen, is "normal" and does not have any hip or muscle abnormalities. However the middle sister, Patty, does have almost identical problems to what I have. However, she did need to have an operation on her hips when she was very young and was put in casts for quite a while; whereas they did not feel that the operation was as necessary for me. I was put only in casts, though, for quite some time to help in correcting some of the hip problems, so that I could at least walk, although it is with a limp. Neither one of us could walk until we were about 25 months. My father also appeared to have the same muscle problem, although we don't know for sure about his hips; he didn't start walking until he was around two years old. He was an only child so we don't know if his siblings would have had the same thing. (I must add that my affected sister, Patty, had a healthy baby boy in August of 1997, and he appears to be alright. Her baby is the first child between me and my two sisters - since it can be passed on to any children that any of us may have I consider her baby to be very fortunate). A few years ago, my father's doctor did tell him that he had, what appeared to be, some type of benign Muscular Dystrophy, but it was never tested. In addition to me, my sister and father, my grandmother (my father's mother) had what appeared to be the same thing as the rest of us. From what I've been told, my grandmother didn't walk though until she was approximately five years of age. We also don't know about her hips; no x-rays were ever done that we are aware of. She had many siblings and none of them had any of these abnormalities. No one before my grandmother is known to have any similar problems. So as you can see, there definitely is a trend of this disorder. Although we don't know for sure about the hips, we have all had about the same limitations with our muscles, with no noticeable progression. Of course extra weight that any of us has gained makes it a little harder for our muscles to work, but none of us feel that the muscles themselves have worsened. (Just a note: my grandmother lived to be 85 years old and died of old age/natural causes. My father died in 1994, at age 62, with Parkinson's Disease - it was never suspected that either death occurred from effects of their muscle condition.)

LIMITATIONS - I would like to describe for you what my life has been like, or how I have functioned, to give you an idea of what my muscles abilities/disabilities are. When going up/down stairs, I need a great deal of support, from a railing. Actually it is impossible to go up stairs without some kind of assistance; my legs don't have the strength to take me up, alone, unless it's only a few inches high, and even then, it is unsteady. Walking up a hill or incline is difficult. The steeper the hill, the harder it is. If the hill is too steep, it becomes basically impossible - my muscles don't have the strength. Jumping is something that has never been possible. The muscle strength is just not there to lift me off the ground and "spring" me up. I remember at around four years old my oldest sister would try to teach me and my other sister how to jump. As much as we tried we could never get our feet off the ground, but couldn't really understand why. When I trip and fall, which happens very easily, I can not catch myself. There is no "in-between". Once I start going, there is no stopping me - it's just dead weight. Getting up from the floor is very difficult to do. I need the assistance of something like a chair and it looks very awkward. My muscles, again, don't have the strength to lift me up on their own. When I was younger, and before I gained weight the last few years, it was a little bit easier; I could (and sometimes still can), get up with putting my legs out straight behind me, and my hands out straight in front of me, and "walking them" closer together until I am, what appears like I am just bending down, touching the floor, and then "walking" my hands up my legs, until in a standing position; this is extremely awkward and odd. (I believe this is called "Gowers Maneuver", or something like that.) Getting up from a chair is possible, but it does require a great deal of use of my arms. Although my arm muscles are weak, my leg and trunk muscles are probably weaker which don't provide much help when I'm trying to get up out of a chair. The lower the chair, the harder it is to get up. Running is not really possible or normal. What it is, is very wobbly and very slow - about the pace (or slower), of a normal person walking. I can make an attempt and go through the motions, but it is not really running. Lifting things are possible, but nothing very heavy. The hardest part of lifting is bending down (at the waist which is the only way; I can not squat down), to the floor and picking something up with very much weight. Bending down and picking up a child is basically impossible for me at this point. If I want to pick a child up off the ground, I have to improvise and figure out some other way, than just bending down and picking it up. I think it's mostly my "trunk" muscles, in addition to my arms that don't want to work. Walking and standing aren't too bad as long as it's not for too long. I do have quite a heavy limp, especially when trying to walk fast or walking up an incline. I walk very slow and can not keep up with others very easily. When I stand for long periods of time, I have to alternate, or shift the weight on my feet very frequently because my lower body gets tired from standing for too long. I'm sure that there are some things that I'm missing, but I think that covers a lot of it. Please let me know if you have any questions at: dlcjcc@erols.com

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