Hello,

I am a 27 year old that has waited way too long to try and get help/educated on Myotonia. I remember my sister going through all sorts of tests and Dr visits when I was probably around 6 or 7, making her about 9 or 10. These appointments went on for years trying to figure out what the exact problem was and it finally came down to Myotonia Congenita. Since the diagnosis, it was kind of a shrug of the shoulders between the Dr's and my parents...Nothing we can do, just have to live with it. When I was 9, I went to baseball camp, and it was like all of a sudden I couldn't break out into run after a period of standing still. I've tried to ignore it ever since, and tried to hide it from everyone around me. Making up any excuse I can as to why I'm slow to get out of a chair, have trouble walking up the first flight of steps, have trouble looking both ways quickly, can't release a firm handshake immediately....you know the list. When my father retired from the military, he had some nerve and back issues pop up and they did some tests and found out that he had the trait for Myotonia, only it seems MUCH more mild than anything my sister or I have experienced and probably unrelated to his problems.

I have never admitted to anyone that I believe I have Myotonia, not even family (though they have brought it up to each other but never to me.) I guess I feel some sort of shame about the whole thing, even though I know this isn't my fault.

For almost 20 years I've been getting by, every single day dealing with stiffness and soreness. I've always had active jobs, but in the last 4 years have become an Instructor which I find relatively inactive but keeps me standing my feet pretty much all day long. In the last 2 years I've noticed that my calves and thighs are almost constantly sore, and the stiffness is making it hard to even walk up a slight incline on the sidewalk leading to my workplace. I have a 5 year old son that I have visitation with during the summer months, and when he was here this past June-July I suffered through the most excruciating paranoia and anxiety that he was going to run out into some sort of danger and I would be powerless to help him. I've tried cardio, eating healthier, walking up and down 4 flights of stairs in my apartments late at night and nothing is really helping.

I've avoided asking for help for too long, so here's my first step. I am going to see a Dr about this and I need help figuring out how to relay this to him/her. Do I just tell him I've self diagnosed with Myotonia Congenita due to family history, or explain the symptoms and let him try and figure it out for himself. Do I see a GP or go strait to specialist? I have a PPO, so I can make appointments with specialists without a referral, but what specialist would that be? I need help getting the ball rolling, and help on what to expect. Thank you for any answers that anyone is willing and able to share. And thank you for this Forum, just typing out this unnecessarily long winded message has helped me to a degree. All the best!

Brian

Type of Myotonia: TBD

Country: USA

Welcome, Brian! You'll find lots of information here - you can read through older posts and also check the website.

Since you already have a sister diagnosed with MC, I would suggest making an appointment with your nearest MDA clinic. You can go to their website at MDAUSA.org and look up your area's clinic by zipcode. They will cover anything your insurance doesn't pick up. They will probably do an EMG and then order a DNA test to find the exact mutation.

The DNA testing is especially helpful if you want to have your son checked. They will only need to look for your specific mutation/mutations and he won't have to go through the EMG.

There are some medications that can help with the stiffness. The most commony prescribed in the US is Mexitil. It seems to get the best results for the most people, but it does have some potential side effects so you have to get an ECG and follow-up every year.

Feel free to ask any questions. We can certainly understand the hesitation to talk about it to others. Some people tell their friends and family they have the human version of the fainting goats condition :-)

Jan

Type of Myotonia: Thomsen's

Country: USA

Thank you for the response Jan! I will have to start using the fainting goat explanation.

So I went to the MDA website and got the phone number for the Richmond Health Care Services Coordinator who refered me to make an appointment at the clinic, which told me that I cannot make an appointment until I have a physician referral, even though I have a PPO. I'm hoping to be able to make an appointment tomorrow to see a general practice physician that will give me the referral without much fuss.

I hadn't thought about getting my son tested, That would probably be good. The ball is rolling, Thanks again for the help! All the best.

Brian

Type of Myotonia: TBD

Country: USA

Hi Brian:

Your symptoms sound a lot like mine when mine were more severe. I have Becker MC but as Jan said, you should probably have the DNA test. There are actually a few different disorders that can cause myotonia or myotonia like symptoms and knowing exactly which one you have might help you optimize the treatment.

When I was at my most severe, in my late teens, I was also overweight, and I feel losing the weight contributed to a significant reduction in my symptoms even though the activity increased my symptoms for a few months. I've also learned to not work against my own muscles. If I stand up and my legs lock, I usually wait until they relax before I try to move. And I try to avoid leg exercises that require forceful contractions, in favor of more low impact things like walking. In fact I've found walking regularly to be the most effective exercise at reducing the myotonia even though it used to tend to make it temporarily worse after the walk.

For an unknown reason I saw the myotonia drop off significantly in the Fall of 2007. Literally, one week I could not get to the phone in time from a sitting position, and the next week I could jump out of my chair and run. I have never found any explanation for this....then again I was myotonia free for the first few years of my life and it came on over the course of a week when I was about 9 or 10 so *shrug*.

But I'm by no means myotonia or symptom free. As I got older my stamina got worse and I've started to have more problems with weakness, and that seems to impact me more than my muscles locking up. I've often thought I wouldn't mind teaching but I know I don't have the stamina to stand up in front of a class for an hour or two and write on the board and I've fatigued my upper back and torso muscles to the point of paralysis before. That's not typical of MC but that's what happened.

But anyway these disorder have high phenotype variability, meaning the severity of symptoms vary widely from individual to individual even if they are from the same family and have the same mutations, so it's impossible to predict any progression or changes in your symptoms based on someone else.

As Jan said, if you do have MC, there is medication that is usually very effective at reducing the myotonia/stiffness. If they do suggest you try Mexitil/Mexiletine (one of the most effective medications for Becker and Thomsen MC), be sure to have them do a cardio workup first. It is first and foremost a heart medication and it's not without it's risks.

Type of Myotonia: Becker

Country: USA

Hey Jenna,

Thank you for the response! I've also noticed that when I gain weight the symptoms seem to be more severe. I am a big guy, 6'1 at 212lbs, and I know I can defiantly stand to lose some. I have been continuing to walk the track every evening as well as at work, and I'm still in the process of getting the appointment set at the MDA clinic. I'm kind of an impatient person, but I'm trying to keep level though it all.

I called my sister and she told me that she was diagnosed with Becker MC so I'm going to assume that my diagnosis will be similar. I teach for 8 hours a day on my feet. The only way I've been able to make it work out is if I keep moving. I walk all around the classroom the entire time. It keeps me from seizing up, but also leaves me tired and sore every evening. Getting out of my car when I get home and walking up the stairs takes some serious doing. As a benefit it has helped me keep the students in line since they know at any time I can be walking behind the workstation and seeing exactly what they're up to. My calves and thighs are getting HUGE though. I'm going to have to start getting my pants tailored pretty soon if I can't get them to slim down.

I really appreciate the explanation on the "high phenotype variability." I've been wondering why it is that my father could do 22 years in the army without noticing that he had any sort of MC.

I'm really hoping to find a happy medium between lifestyle changes and medication. I'm not a big fan of taking meds, not morally or physically opposed, just never have liked it. I've been reading a bit through the site, and looking at the things that have helped others and am going to start implementing some into my own routine. I suppose I am going to have to learn to stop working against my own muscles as you put it. I normally try to push through the stiffness, like I can out muscle my muscles.

Well thank you again for the response! You guys have helped me more that you know, and I appreciate every word written. This forum is a blessing that I'm glad I stumbled upon. All the best!

Brian

Type of Myotonia: TBD

Country: USA

Oh definitely don't push through it! It's futile, needlessly tiring, and is thought to be what causes the muscle enlargement.

Type of Myotonia: Becker

Country: USA