The MYOPATHY SURVEY
The myopathy survey was a rather poorly worded (my fault, entirely), ongoing longitudinal study and analysis of symptoms and concerns of myopathy patients and their families. It spanned almost 8 years and there were over one hundred participants. Participants personal information was, and remains, absolutely confidential.
I learned the hard way, from trying to tabulate the survey replies, that there seems to be almost as many myopathies as there are people, and, countless overlapping 'symptoms' for each myopathy, and each and every person experiences their myopathy in a myriad of different ways.
Every person has some symptoms that are the same as others, of course, but, just as many symptoms may be different from others. There doesn't seem to be any really clear-cut defining symptom, in most cases, (there are exceptions) that shouts, "this is IT! THIS is the myopathy I have!" Diagnosing which myopathy a person has can be a long, drawn-out process and, there are times that even with the best of testing, a diagnosis just doesn't happen, for whatever reason.
Of course, some people DO get a definite answer, and, when they do, it is generally from a muscle biopsy. However, just as often, many DON'T get a definite answer, even WITH a biopsy. This is incredibly frustrating, and, many parents face the agonizing decision of whether to biopsy the child or not. Deciding whether or not to have your child biopsied depends on many variables and is a very personal decision. It often helps to talk to other parents who have gone through the same process. There are two myopathy lists that you can join, for information and support. One is strictly for people with Multicore Myopathy and the other list is for all kinds of myopathies. Even if you do have a definite diagnosis of Multicore Myopathy, I still suggest you join both lists....the general myopathy list is far more active and has lots of information and support. The link to join either list is myopathy lists.
If you pick ten people with the same myopathy, although all ten MAY share some of the same symptoms, most of the time there are glaring differences, too. No wonder the medical community has such a difficult time!!
So, what did the survey highlight? Early in the survey, most respondents weren't aware that CARDIAC INVOLVEMENT and RESPIRATORY COMPLICATIONS can be a possibility in SOME myopathies and that regular cardiac and respiratory check ups should be scheduled. The myopathy introduction page has some links that you may find useful and interesting.
The survey highlighted that PAIN can be a major consideration with most myopathy patients, young and old, and can have a very serious and significantly debilitating impact on their lives. This commonality of pain flew in the face of conventional belief, at that time, that myopathies weren't painful. Sadly, there are members of the medical community who still believe that myopathies aren't painful. If you have a myopathy and you experience pain, and your doctor says or implies that myopathies don't cause pain, here is a very interesting article you may want to bring to his/her attention: Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease.
The survey also clearly indicated that FATIGUE is another very serious and debilitating problem. This fatigue is NOT just your everyday, garden variety, type of fatigue, but a lassitude so overwhelming, that even performing simple, every day tasks can be exhausting. And, I use the word 'exhausting' only because there just doesn't seem to be one word that aptly describes this terrible fatigue. The MDA has an excellent article titled "Running on Empty", that helps explain a little about this type of fatigue, but, it was pointed out to me by a myopathy member, that even this article fails to adequately describe how debilitating and demoralizing this type of fatigue and exhaustion can be.
EXERCISE INTOLERANCE is another factor that the survey highlighted as a potential problem and when I use the word 'exercise' it does NOT mean aerobics, or running, or weight-lifting, etc......it means activities of daily living - ADL's....just getting dressed, making beds, doing dishes, etc., or, in the case of children, simply playing and/or going to school. Many, many myopathy patients simply can't participate in normal ADL's without pain and fatigue. The risk with exercise intolerance is rhabdomyolysis. Rhabdomyolysis is the breakdown of muscle fibers resulting in the release of muscle fiber contents into the circulation. Some of these are toxic to the kidney and frequently result in kidney damage. When rhabdomyolysis occurs skeletal muscle is damaged and myoglobin is released into the bloodstream. Myoglobin is an oxygen-binding protein found in skeletal muscle. You can read more about rhabdomyolysis at Medline. The url is http://www.nlm.nih.gov/medlineplus/ency/article/000473.html
The survey also indicated what many myopathy patients had already suspected or discovered - that some myopathies are PROGRESSIVE. Many articles state that myopathies are non-progressive and, indeed, many doctors still believe that statement to be true. However, in this link http://www.emedicine.com/neuro/topic76.htm the author notes that, " The above features apparently do not apply to all cases of congenital myopathy. Some cases have been reported as adult onset or as a progressive course." Many respondents noted dryly that their myopathy was certainly progressive because they were getting worse!
This brings to our attention another point - not all myopathies present in infancy. Some are ADULT-ONSET.
*(The Myopathy Survey results are very much a work in progress. This is what I've written as of June 23rd, 2005. Please feel free to make comments and suggestions, correct my grammar, spelling or even, God forbid, criticize me....just be gentle. Remember, I'm a real person with real feelings! You can email me at famadio@cogeco.ca )