VERY interesting chart, Jenna. What a neat idea! Since I am twice your age, apparently, and my experience is not dissimilar to yours, I wonder if your next 30 years will follow my path.

My symptoms, though, go back as far as I can rmember. I have specific memories of stiff legs and feeling very clumsy dancing in the living room with my Dad, when I was 3. When I was 3.5 - 4, people would stop my mother on the street and ask if I was a dancer, because my legs were so highly muscular.

The tripping and falling and seizing of the muscles began when I was about 4-5... I remember because I adored roller skating, but I had to be really careful and overly "casual" when I first started, to warm up and loosen up - my friends couldn't understand why I didn't strap on my skates and join right in the races.

You're a talented, clever girl. I'd like a chart like that! Lois

Type of Myotonia: Myotonia Congenita, Becker's type

Country: USA

Is this typical of many of you to have the MC worsen then start to go away?
I am going to be 40 this year and have found mine to continue to worsen. I know my first real example was when I was 5 in kindergarten, I stood up to go get my crayons from the drawer that was across the room and fell flat on my face, could not even catch myself. It was scary.....

As time goes on the condition gets worse. I know that in 2004 I was using dual canes with the arm supports just to get around, that is the year my Dr put me on mexil. I rarely use a cane but I surround myself with people who know of my MC and let me hold their arms when we walk.

I may not be the typical case so I was just wondering.
PS I have now moved to a place where there is a MDA clinic just 45minutes from me. I filled out the paperwork last week and can't wait to see a Dr from there.
Suzi

Type of Myotonia: unknown

Country: usa

Suzy - I hope you are able to get the DNA testing, and learn what your actual diagnosis is! Lois

Type of Myotonia: Myotonia Congenita, Becker's type

Country: USA

Suzi:

This is going to be long but I'll put it out there in case anyone finds it helpful.

I think it really depends on the mutation(s), the individual, and environmental conditions.

Some people seem to have fairly consistent myotonia throughout their life, while some see it lessen as they age. I've heard of cases where it resolved for a few decades only to come back in later in life. Some people report becoming more severe as they age, and then, some mutations only seem to cause symptoms to appear during pregnancy.

I really don't know what has caused it to drop off like it has, but I believe there were a few factors involved.

1. I lost 100lbs between 20 and about 21 1/2 years old. This probably caused a drop in progesterone levels, and definitely took a lot of load off my muscles.

2. I maintained at least a moderate level of activity from the time I started losing weight, through my 20's. I would at least walk 3.5 miles no less than 3 times a week. For some reason a moderate level of activity just seem to work for a lot of people as far as myotonia goes.

The whole processes of starting to go to the gym actually made the myotonia worse for a while. It was always very difficult for me to move right after the gym, and it took about 9 months and a loss of 50 or 60lbs before I started to see improvement. My goal at the time wasn't to reduce the myotonia. At that point I just thought I'd always have it and it'd always be more or less that bad, so my actual intention at the time was just to lose weight....I could not carry it well and was in very bad shape.

Purely speculative reasons that have crossed my mind as to why the myotonia kept dropping off in my 20's:

1. With the drop in myotonia I've experienced a rise in weakness. Maybe this is related?

2. Drop off of certain hormone levels during 20's?

3. Moved away from crops/pestacides: I'm not really into organics or anything like that. I moved for reasons entirely unrelated to what they were spraying in the fields, or in the gardens, but I do know some pestacides/herbicides can cause myotonia in normal individuals and I don't know if people with CLCN1 mutations would be more sensitive to this. My myotonia was had become fairly mild in the weeks before I moved, but the significant thing is, it didn't get worse after I moved even with the increase in stair climbing, which was the type of thing that previously would always make it worse, so I was really surprised. I couldn't say that there's a relation to getting away from the chemicals but it did cross my mind as curious.

4. Stopped growing? As far as I understand it in most mutations studied, it seems the primary mechanism for myotonia is that the chloride ion channels need much more positive or negative biasing to open all the way. A study done on the mutations I have, observed the channels produced by these mutations function close to normal. But it also observed that the proteins that make these channels are not transported to the cell surface efficiently. If this is correct, it might imply that most of my myotonia is due to not having enough of these almost normal channels at the cell surface.

My myotonia could almost always be provoked or worsened by any activity that caused a breakdown/replacement of muscle cells. I imagine these cells are replaced a lot faster when we are younger. I've wondered if, with me, maybe these new cells are initially lacking the minimum number of chloride ion channels needed to function properly.

And perhaps that process of cell replacement has just slown down enough due to age that my chloride channels can keep up.

I've also lost a significant amount of muscle mass so there's less to not work right and less to have to repair.

That's all just speculation though.

It doesn't really explain the attacks or the rogue myotonic cramp, or the increased difficulty with my hands though. I suppose those could be the effects of environment/hormones on the channels themselves.

Type of Myotonia: Becker

Jenna,
Can I ask about your weight loss?

I sure am happy to see you were able to loose the weight. Can I ask what your starting weight was and if you are still loosing or if you are happy with your current weight? If you are happy, are your muscles like a body builder still?

My Story:
I joined Curves when I was about 27. I was going there 4 times a week for the 30 minute sessions. I really wanted to loose weight, that was my main goal, the secondary goal was to try to loose my belly. By the 4th month I needed to use a cane to get there and could hardly move from one machine to another. By the 7th month I was still in the same size I started with but gained more weight because of more muscle mass, had not lost anything except the ability to move.

Congratulations again,
Suzi

Type of Myotonia: unknown

Country: usa

Suzi,

Just want to jump in here and say that you need to be very careful with an exercise regimen when you have a sodium channel disorder like hyperkalemic periodic paralysis or paramyotonia congenita because you can actually get permanent muscle damage called vacuoles. This would show up in a muscle biopsy but it's a lot easier to get the DNA testing.

Hopefully a new doctor will help you get a definitive diagnosis. Since your months of workouts caused severe, disabling myotonia requiring the use of support canes it sounds like you have something other than MC.

Jan

Type of Myotonia: Thomsen's MC

Country: US

Yes, I should say I had previously had a muscle biopsy which came back normal.

Type of Myotonia: Becker

Thank you so much for the chart and this website. I have been dealing with the Myotonia since I was about 3 years old and was told it was so rare there was not a lot of information on it. I will be 40 this July and I am just NOW finding out SO much more about this disease then I ever knew. It seems that just recently, say in the past 4-6 months I have seen my condition worsen. I have always experienced the Myotonia in my lower extremities,(had to stand up and wait before trying to walk). I saw a Neurologist at Johns Hopkins in Baltimore, MD about 10 years ago who did some more testing and took measurements and such to find that I had some weakness on my left side which I had figured because I was having more difficulty getting around. She put me on Mexiletine to help with the stiffness which I did not find useful so I stopped taking it. The myotonia seemed to lighten up over the next 3 or 4 years. Then I had a knee injury (No idea what I did just woke up one day and it hurt and was swollen) I had xrays and an MRI to no avail. The Orthopedic has no idea what is going on. Since the injury, my myotonia has worsened again. I am now experiencing more stiffness and weakness in my arms and hands which I never had before. Walking is becoming much more difficult and the other day, I almost fell outside a store while talking with my son and a passerby because the muscles just tightened so badly I felt as if I were going to fall. I had to yell for my son to grab hold of me until it stopped. I have since made an appointment with the MDA clinic at the University of Penn but the soonest appointment they have is July. I am willing to wait in hopes to get some new answers. I have never had genetic testing done only a muscle biopsy when I was 7 and the EMG done at Johns Hopkins about 10 years ago. No other tests have been performed. I know that the COLD is a HUGE trigger for me and I also have more problems during menstruation which leads me to believe that Hormones must play some roll here. I have always struggled with my weight which currently is 210 pounds on a 5' 7" frame. My lowest weight in my adulthood has been 160 pounds. I have been able to lead a semi normal life. I have two beautiful teenagers (1 boy, 1 girl) who do not seem to have any showings of Myotonia.

It just feels so good to know there is this site where I can talk to other people who know what I have been through, what I continue to go through, and what life is like. I tend to make jokes to my friends to lighten things up by telling them not to yell BEAR in the woods and jump out and scare me because I may fall on my face. But there are times I just want to break down and cry because it can be so frustrating. SO thank you again for this information, site, and support group.

Type of Myotonia: Becker

Country: USA