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Diagnosed with Myotonia Congenita, but unsure

Hi everyone,
My name’s Dave, I’m 36, live in Australia and I was diagnosed yesterday with having Myotonia Congenita. This diagnosis was after an EMG which showed the characteristic single fibre firing in the muscles, or muscular hyper-excitability.

I haven’t undergone genetic testing yet, but the neurologists seemed pretty sure. I seem to fit the bill for some of the things, such as hands have trouble unclenching, when I get up my quads feel stiff and takes few steps to get them moving, but a lot of my other symptoms I’m not too sure about.
I have been getting intense pain in various muscles around my body for the last two years, and blood test revealed extremely high AST, ALT and CK levels in my liver. Average CK is around 250, high is 400, after a heart attack it’s around 1,000, mine have been over 3,000.

All of these markers in the liver are muscle related so it was put down to enzymic waste from my muscle attacks. I ended up in hospital passing gall sludge as my liver was unable to keep up with the amount of toxins my body was secreting, and was pumping the excess into the gall bladder. Normally small amounts will build up in the gall from unhealthy living over a period of years, which will harden into small stones over a period of years. My gall bladder was nearly full of this sludge within a matter of a few months, and was forced to pass it through the gall duct.

To give reference to these levels, I am a non-drinker, non-smoker, have been competing in Brazilian Jiu-Jitsu, and have been avid powerlifter, with a very clean, non-processed diet, so I was very surprised to find myself in hospital passing gall sludge, which would have been unusual for even a morbidly obese person with a crazy bad diet and cirrhosis of the liver.
I was initially diagnosed with Systemic Lupus, but then a rheumatologist dismissed that, and he then performed a muscle (quadricep) biopsy, which was inconclusive, except for necrosis of the tissue. Great. :-)

A few years on, my muscle pains have been getting worse, and I have changed doctors, the guy I am seeing right now agreed that we needed a diagnosis. After many test, I was referred to see the neurologist yesterday, when they did the EMG testing and told me it was Myotonia Congenita. They didn’t know much about it, and said I should probably go home and do some research on it which I have, so I have a few questions for them, but I though it best to let everyone here know what my symptoms are, to get some feedback on if it similar to what you may be experiencing.

• Hands have trouble unclenching after making a tight fist
• Quadriceps feel stiff when getting up after sitting. This goes away after a couple of steps
• Intense muscle pain that feels similar to cramping, but is much sharper. The muscle doesn’t appear to contract at all, and I can still move fully during this pain
• These pain attacks last a few minutes, and commonly get me in the quads, glutes, pecs, shoulders and upper abdominals. Sometimes, although less frequently, the neck, calves, forearms.
• These attacks normally come on by themselves, I can be sitting on the couch, and all of a sudden a muscle will start to twitch a little then over a few seconds, develop into fairly intense pain. Sometimes contracting the muscle which is hurting seems to alleviate the pain a little, but not much. Even just going for a walk, my pectoral might develop a searing pain by itself, seems to spread across the chest a little, sometimes up into the shoulder
• If someone pokes me in the arm or something, that muscle will start to hurt a little, then over a period of seconds it develops into the full blown cramp like pain
• Just the over night, while I was studying, my wife started to massage my traps gently then suddenly i had intense pain up the back f my neck and she had to stop.
• I quite often wake up at 3 or 4am from muscular pain, usually int he quads at this time of night, but sometimes elsewhere

That’s pretty much it. From what I understand, the intense muscle pain without contraction isn’t indicative of Myotonia, nor is the pressure sensitivity/response. Obviously with the way it its overloading my liver, means I am looking at some liver complications, which will steadily get worse over time as my liver weakens from this bombardment. It just seems unusual that I would have such crazy high enzyme levels, which match the pain, but no cramping or contraction of the muscle that appear to be endemic with Myotonia.

I also feel that the neurologist may have decided upon Myotonia from the EMG and that fact that I am well muscled. The problem here is that I was muscled from years of bodybuilding, and only as of January this year have I be stopped training. I have lost around 7kg of muscle mass in this time, so the musculature I am carrying is not from hypertrophy due to contractions, rather it is a remnant of my former lifestyle.

Anyway, I thought it best to speak with people like you who are experiencing Myotonia, to see if my symptoms sound like what you are experiencing.

Thanks for your time, and hope to talk soon. :-)


Type of Myotonia: Unsure

Country: Australia

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