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.

Symptoms
• 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. :-)


Regards,
Dave

Type of Myotonia: Unsure

Country: Australia

Dave,

It sounds like genetic testing will be the best way to sort this all out. Most doctors have had so little experience with any type of myotonia that if they see a positive EMG they immediately think myotonia congenita.

Does anyone in your family have symptoms similar to yours (even extended family)? Even with the dominantly inherited forms of myotonia it is possible for parents to appear to be asymptomatic. But if no one including aunts, uncles, cousins, grandparents, etc have symptoms, then it is more likely a recessive form of myotonia. Also with myotonia congenita we almost always have symptoms beginning in childhood, usually from age 2-12. The stiffness and muscle hypertrophy can be quite pronounced even in toddlers.

Muscle biopsies are almost always inconclusive for us. I don't know why doctors still put patients through that when DNA testing is so readily available. There will almost always be atrophy of Type IIB muscle fibers in myotonia congenita. I'm not sure if that is the same as the necrosis in your report.

One possibility is that you may have a condition called Isaac Syndrome or Neuromyotonia. That would explain the muscle pain and cramping as well as the myotonia. In most cases this is caused by antibodies to the potassium ion channels. Wikipedia actually has a good overview:
Neuromyotonia

I don't believe neuromyotonia is specifically associated with gallbladder issues, although CK levels can be elevated. The high CK (and I have seen it even higher than yours with myotonia) is a result of the muscle cells being damaged. Bodybuilders always have elevated levels for a day or two after an intense workout. It all depends on how much the muscles are stressed. When we push against the myotonia (for instance when our legs suddenly stiffen as we're going up stairs) it will simulate extreme isometric workouts so people can have quite pronounced tissue damage.

The other condition that comes to mind is myotonic muscular dystrophy or MMD. There are two types, DM1 and DM2, and possibly a third. Myotonic dystrophy is associated with GI issues including liver and gallbladder problems, as well as cardiac problems as the condition progresses. A simple screening tool at your age would be an eye exam. There is a very particular type of cataract seen in myotonic dystrophy, sometimes referred to as a Christmas Tree cataract. It can begin to form in the 20s and 30s and often this is the way many people are initially diagnosed.

Elevated liver enzymes are not related to myotonia congenita, but they would definitely be seen with MMD. If it was inherited from your father, you may not have symptoms until adulthood. Often if it is from the mother, the baby will be born with poor muscle tone and a much more serious form of the disease. It is possibly to have hypertrophied muscles earlier in life from the myotonia, then they begin to atrophy as the condition progresses.

This is a very good website for information on myotonic dystrophy:
Myotonic Dystrophy Foundation

I don't believe I have known anyone personally with MMD who had the pain/fasciculation attacks, so it's very possible you have a combination of two disorders like neuromyotonia and a liver/gallbladder disease. But in any case, DNA testing for the myotonia congenita and myotonic dystrophy will confirm or exclude those. The testing for neuromyotonia usually begins with antibody tests, but that is not always conclusive.

This would be the organization to contact in Australia. They can tell you where to get the DNA testing. You will probably need a referral to a geneticist:
Muscular Dystrophy Association Australia

For now I would suggest using 1000-2000 mg of the amino acid L-Taurine. This will help with the gallbladder issues and will also relieve some of the myotonia. For the muscle cramping, magnesium citrate is a good supplement if you're not already using magnesium. Too much will increase potassium to the point that it may affect myotonia, so usually 500 mg is a good target.

The other two supplements I would recommend are milk thistle extract with standardized silymarin content (liver support) and Acetyl-L-Carnitine for muscle support. Also medium chain triglycerides are less likely to cause muscle cramping and liver issues. I would ask for a carnitine related mitochondrial disease screening to be sure that's not a factor in the elevated CK levels.

I'm sure you're a bit overwhelmed with all this, but at least you have a clue (myotonic discharges) to start narrowing down the possibilities.

Jan

Type of Myotonia: Thomsen's

Country: US

Thanks for the reply Jan!

I had looked at Myotonic dystrophy, and am obviously crossing my fingers that this is not the issue! :-)

After your suggestion of neuromyotonia, I did some research and it actually seems to fit the bill perfectly, even explains the excessive sweating I was getting but didn't think was related.

I will talk with my GP about this possibility next week, and then the neurologist. Just need to be careful how I go about it with the neurologist as most specialists don't like to be wrong. :-)

Obviously time will tell, and I will come back with an update. I just want to thank you so very, very much Jan, I have been going through this for years with no diagnosis, and even though the neurologists were heading into the right direction, after some research I could see that myotonia congenita didn't match what I was going through.

After researching neuromyotonia, and how it fitted my symptoms, I feel I have a much better direction to take for a conclusive diagnosis. Considering the extreme rarity of the Isaac Syndrome, I think your suggested diagnoses are a testament to your knowledge in this area, and I think this community is lucky to have someone such as yourself here.

Thanks again, and I will be sure to post back in the coming months on my outcomes.

Take care.

Regards,
Dave

Type of Myotonia: Unsure

Country: Australia

Hi

I suffer from Myotonia (EMG positiv) wich is not MD 1 and not MD 2 and not the Isaacs syndrom and the gentesting for SCN4A and CLCN1 was without any result.

But I have these pains, stiffness and fascicualtions, too, and my dougther and three uncles (father and grandfather side) suffer from the same.
My father, witout myotonic symptoms, hat exactly the same liver problems and gallbladder full with concrements like you, and he wore a peacemaker. But noone of us has a cataract.

My liver is cystic, but still the function is good and I have no increased CK. Did you make a sonography oder MRI?

So I'm sure that there are more types of myotonia oder myotonic dystrophies.

Stephany

Type of Myotonia: unknown

Country: Switzerland

Stephany, do you know if your CLCN1 and SCN4A testing was full gene sequencing or only known mutations? Some labs just check for previously published mutations so if yours is unique to your family, it may not have been noted in literature yet.

Jan

Type of Myotonia: Thomsen's

Country: US

It was only a testing for point mutations. So there could be still a deletion or duplication mutation, but my health assurence is not paying any testing anymore and in Switzerland it will cost as much as a monthly income to look exactly at the CLCN1 and SCN4A genes.

Type of Myotonia: unknown

Country: Switzerland

I'm sorry you can't confirm the type. I have Thomsen's and my mother never had any symptoms even though her EMG was positive. It's interesting how much variation there can be even within families.

Dr. Lehmann-Horn's lab in Ulm, Germany used to do full sequencing free for members of the Periodic Paralysis Association, but he retired several months ago and they quit offering the service.

Do you have myotonia affecting your eyes, tongue, throat, diaphragm, etc? That seems to be strongly associated with dominant MC...most of the people I know with Becker's don't seem to have as much trouble with the muscles in the face.

Jan

Type of Myotonia: Thomsen's

Country: USA

Dear Jan

I was writing to Mr. Lehmann-Horn about two years ago. He let me fill in a form of 20 pages and then diagnosed a hyperPP with Myotonia, but he was not 100% sure. He didn't offer a free testing. He send me an estimate of costs and it was too much for me to pay.

Yes, I do have problems with the diaphragma ( in the water I cant breathe at all and after coughing a lot or singing I suffer from respiratory depression) and with my eye muscles (the inner ones) and a bit with my face (masticatory muscle), but my tongue and throat are not really affected. But when I speak for a longer time, I fell a kind of pain and my voice gets raucous, so I have to stop using my voice and be quiet for a cuple of hours or a day.

My EMG was positive. It cannot be Becker because my doughter has the same.

Stephany

Type of Myotonia: unknown

Country: Switzerland

Hi Stephany,

I hope you are able to organise a clearer diagnosis. I am still in limbo myself, waiting to see the neurologist. Fingers crossed for you and your family.

Regards,
Dave

Type of Myotonia: Unknown

Country: Australia