Thanks for that extensive reply Jan, it made fascinating reading.

The seizures are really cramps but they can be very severe, the worst I've ever had involved every skeletal muscle in my body. My doctor tends to refer to them as seizures, which I can see could be confusing now.

I had a blood test done last year but that was the first one I’ve had since starting on Mexiletine, which I’ve been using for some time now. Although I have the product insert I was not aware about issue with caffeine; fortunately I don’t drink a lot of coffee in a normal day.

I have read the Quest magazine article, in fact I’ve edited it down and gave it to my current employer as a fact sheet. They were very appreciative and I now benefit from a much more positive attitude because they understand the nature of my complaint and, I believe, now know that MC is scientifically recognised and not just in my imagination!

I don’t eat a lot of salt and exercise is limited to physiotherapy, it tones my muscles which is of benefit, but it doesn’t give me a strenuous workout. My wife is good with food management so I’ll get her to look at the carbohydrate content of our meals. In fact I’m going to show her your reply, she’s a student nurse (final year) and I know she’ll be interested in understanding my condition better.

I do suffer the muscle weakness; sometimes my arms are just too heavy to hold over my head, they just collapse. I’ve also had situations when I can’t move my arms, it feels like there’s just no strength there at all. However, I can’t say that this symptom has got any worse since starting on the Mexiletine.

Again, thanks for your very comprehensive reply.

Type of Myotonia: Becker's

Country: England

I am a newly diagnosed myotonia sufferer. I've experienced muscle symptoms all my life, but have found that the symptoms are getting worse. I am an RN, who was injured on the job and haven't been able to work for quite a while now. Since discovering this site I've had a lot of "pieces of the puzzle" fit. It is nice to finally have proof that I am not crazy. My main concern right now is my youngest daughter. She is having headaches originating at the base of the skull and into her neck that are unrelieved, tingling in her hands and now legs, can't sleep etc... She also has a history of minor injuries (sprains, strains). I strongly suspect MC, but getting her neurologist to do a DNA test has been difficult. Just a couple of days ago he prescribed a "happy" pill and told me he thought she was depressed. I can tell you she is not, but he won't listen. I didn't give her the meds, because she doesn't need them and I'm a little gunshy until I know what is going on. Does anyone have any thoughts?

Type of Myotonia: unkown

Country: USA

Jodi,

If one of you gets a positive DNA test, then all that's needed to confirm MC from that point is a quick EMG to detect myotonic discharges.

You might want to contact the closest MDA clinic and see if they have any funds for testing. Since you don't know your type it could be either MC or paramyotonia congenita or some other rare form of myotonia. The DNA test from Athena, myotonic profile, would help differentiate. I think the MDA sends most of their tests to that lab.

One thought about your daughter. If she has hypermobility or is "double jointed" or extremely flexible, you could have a rheumatologist check her for a condition called Ehlers-Danlos Type III. It's totally unrelated to MC but I happen to have both and so does one of my daughters with MC. It's not that rare, just seldom diagnosed. It can cause subluxations of joints and constant sprains and joint strains. It indirectly affects the muscles but is not a muscle disease.

There is also the possibility of myotonic muscular dystrophy in your family which affects muscles, heart, GI tract, endocrine system, etc. Again, the Athena testing would confirm or rule out this type.

I'm glad you're refusing the "happy pills." It so dangerous to give them to children and teens. Any chance you can get a different doctor?

Jan

Type of Myotonia: Thomsen's MC

Country: US