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Suffering from Myotonia congenita - Online Doctor Chats

Date : 21-Feb-2012
User rating for this question
Very Good Posted in: Bones, Muscles and Joints
Answered by

General & Family Physician
Practicing since : 2005
Answered : 2585 Questions
User :   I was diagnosed with myotonia congenita in January. I was fortunate that my neurologist worked in a teaching hospital, so was familiar with the myotonia spikes on the test. However, my symptoms are atypical for most MC sufferers. I have a lot of pain, fallen several times, can barely walk up stairs, get up from chairs, etc. I am negatively impacted by the cold, have the big muscles in my lower body, but not much strength in my upper body. I think my neck may be involved, too. I don't think my muscles "warm up" with exercise, at least not much, since my muscles on the stairs don't improve. I have a parent and siblings with the same thing.
Doctor :   Hi
User :   Hi!
Doctor :   Proceed with your query.
User :   Do my symptoms still sound like MC to you?
User :   I have had these symptoms all my life, but they seemed to get somewhat worse once I hit my 50's.
Doctor :   Are you on any treatment for the same?
User :   No treatment. I am waiting for an appointment at the teaching hospital. My personal doctor, who's very good, knows less about myotonia congenita than I do, so everything is waiting on the appointment, which is siow in coming.
Doctor :   Ok
Doctor :   May I know your age?
User :   I am 60. My sibs with symptoms are 58 and 56, and as I said before, symptoms just seemed to be a little worse after 50
Doctor :   Ok
Doctor :   Let me explain to you.
Doctor :   Presence of pain and muscle weakness suggest that you have one of the musculoneuropathies
Doctor :   However it is difficult to predict the exact diagnosis based on clinical history alone.
Doctor :   Yes, absence of warm up are against the diagnosis of myotonia,
Doctor :   however positive reports of myotonia on the EMG over weighs the absence of warm up and the other atypical symptoms that you have.
Doctor :   So if the EMG reports were suggestive of myotonia, then I cannot rule it out based on your atypical symptoms alone.
Doctor :   Further more, confirmation of the diagnosis is possible only by means of muscle biopsy.
Doctor :   Have you followed what I have suggested?
User :   Does muscle biopsy mean taking a "bite" of muscle to look at?
Doctor :   Yes,
Doctor :   A sample of the muscle fibres are taken and studied under the microscope - high power resolution microscope.
Doctor :   This is the gold standard test in concluding the diagnosis.
User :   Would different muscles show different things, depending upon if those muscles show symptoms or not?
Doctor :   The symptoms of myotonia are generalised.
Doctor :   I do not expect the results to vary.
User :   Then a teaching hospital is the next place for me to go? Would it do any good to return to the neurologist who made the original diagnosis?
Doctor :   However the most affected muscles will help the pathologist examining the fibres in establishing the diagnosis without any difficulty.
Doctor :   hence routinely neurologist prefer muscle biopsy on the most affected muscle.
Doctor :   The most commonly used muscle fibres are obtained from the calf muscles.
User :   Is a muscle biopsy done under anesthesia?
Doctor :   Yes, you will be given local anaesthetic agent or a spinal anesthesia.
Doctor :   The procedure is a minor procedure with no major complications.
Doctor :   I suggest you to discuss with your neurologist and decide upon the further course of management.
Doctor :   Hope it is clear to you.
Doctor :   Do you have any other query?
User :   Yes, thank you. No, no othe r questions.
Doctor :   Thanks for consulting me.
Doctor :   Bye for now.
User :   Goodbye
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