Some of you might know that I seem to have symptoms related to the MC other than the delayed relaxation, and that one of these issues entails problems with my hands that have developed over the course of a decade.

I've found people with sodium channel myotonias that have these same problems, but not many with Becker or Thomsen MC.

I sometimes wonder if it's related to the fact that I actually have three mutations but the third one does not involve an amino acid change, and it's effect is unknown. This same mystery mutation was also found in an individual who had only one "recessive" mutation (one of the same one's I have) but displayed clinical manifestations anyway.

So maybe it has something to do with it.

Anyway though the main problem I have in my hands aside from the delayed relaxation and weakness is, "coordination" issues. That's a bit deceiving because I can still do some very delicate work when I'm having this problem. My issue is actually more with macroscopic things, dexterity, stamina, and speed, and it can take more concentration for me to get my hands what I want them to do. I usually liken it to those old ladies who can knit and crochet and do fine needle work but have trouble getting a piece of paper in an envelope.

Since I'm a young individual, and people don't expect me to have these problems, this has caused a lot of unpleasant situations in my life, especially when compounded by the more ordinary MC symptoms.

Unlike the ordinary symptoms though, which usually resolve with use, this hand problem becomes worse with use.

I remember towards the end of one quarter at school, when I was doing an extremely large amount of manual writing, it was an effort to put sugar and cream in my tea because my hands felt so "unsteady" for lack of better word.

Anyway though, I've given my hands a good rest and a few months later, I'm absolutely stunned at the difference. My hands feel almost normal...of course that will change if I go out and do some yard work, but I didn't realize how bad the problem had become until it had resolved. It really is a drastic difference.

Thankfully I don't think there are many situations I am going to encounter in every day life outside of school that are going to cause me such problems...maybe that's why not many people seem to have this issue, they haven't been in a situation which will precipitate it, but I wanted to share in case any one else ever has this problem so they'll know that others with MC and other forms of myotonia have experienced it.

Type of Myotonia: Becker

Country: USA

Jenna, that's interesting about the third mutation. I wonder if the hand issue is related to myotonia or something else. The only time I have those issues is also when I've done yard work,especially using pruning or grass shears.

We're getting closer to figuring out the mitochondrial disorder that runs in my family. I have a feeling that people with MC who have unusual symptoms probably also have a mitochondrial issue. It is often related to carnitine metabolism and can include severe exercise intolerance, shaking or tremors, and drastic reactions to statin drugs.

Most MDA clinics have a neurologist who specializes in mitochondrial disorders, but they are usually in the pediatric clinics. A muscle biopsy can help diagnose it if it is done at a clinic that checks the results immediately and if they run several tests on the muscle sample, not just a couple.

I think there is a specialist at UCSF. I can check about UCD if you'd like to investigate.

Jan

Type of Myotonia: Thomsen's

Country: USA

Hi Jan:

Thanks for the information. I had a muscle biopsy in 1997 which came back normal....though they took it from my leg where I don't have these problems. The location was actually my request because that's where I have having the most myotonia at the time and I thought my arms were weak enough.

I also have problems after working in the yard. As of the past few years I get a tremor which I'm pretty sure is from weakness or the muscle cells just being in a bad state of some sort where they aren't really functioning properly.

I think the ion imbalance caused by the MC really just messes up the whole cell metabolism. My grandmother had Myesthenia Gravis, and while I don't think I have that, I see a lot of parallels. I remember a few years back, a classmate and I were working on an assignment over instant messenger together and it got to be about 4am and I finally said "I have to go to bed", not because I was sleepy but because I literally could not hold my head up because my neck muscles had given out. My grandmother used to have to wear a neck brace to hold her head up sometimes. I don't have ptosis or any of the other hallmark symptoms of MG though, unless I had an unusually mild case.

We both had a tendency to stop of the third step but she stopped because he leg muscles had given out and I stopped because my leg muscles had locked up:-)

But this hand thing has really had some bad repercussions with school, and I've only been sitting here for two hours today and my torso, back, and shoulder muscles, even my biceps are burning like I've been smashing bricks in a gulag, which really just is not normal. I've brought it up with the doctors before but unfortunately they didn't have many ideas, which I don't fault them for, but maybe I'll look into that mitochondrial issue if there's a way to manage it.

I'd really just like to get rid of at least one card in my deck.

Type of Myotonia: Becker

Country: USA