My guess is they use the muscle relaxers because they can be an easy fix and people usually don't complain about them.

As for the potassium, I usually just eat a thing of yogurt, which has about 340-450mg of potassium. I've recently discovered those juice boxes of Minute Made fruit punch have about the same amount and it usually seems to help.

I haven't tried the supplements because they can be hard on the stomach.

Type of Myotonia: Becker

Country: USA

Hi all, just checking in with an update. Sometime around the first week of June, I reported that I was having amazing results with Diazepan. It's August ninth and I have only had 2 mild episodes of Myotonia. I also stopped the med for 2 days to see if it was all in my desperate head. The severe pain and attacks jumped right in. I'm taking 2mg/day sometimes 1mg/day and I'm free again. Now, I am not jumping to conclusions and no one can figure out why it's working on me. I'm staying on this dose that I can't even tell I'm taking for the next 6 months before I make any attempts to return to employment. I need to make sure that I don't have to keep increasing my dose every so many months. I feel like I'm about 30 and I'm going to be 56. I'm walking a lot, losing weight and smiling again. God is good!

Type of Myotonia: Becker

Country: U.S.A.

David:

I'm glad the medication has continued to work. I don't know much about pharmacology so I can't really say much on how it works either. Various sources say it suppresses the nervous system. I think I was given diazapam once when I couldn't reply with the request to relax my muscles during an outpatient procedure. It did relax my muscles but it also slurred my speech. In MC, when the chloride channels fail to let sufficient amounts of chloride into the cell to cease muscle contraction, it results in repetitive discharges which sustain the contraction.

This is pure speculation and I could be completely wrong...I don't know much about pharmacology or how diazapam works in the body, but maybe it's attenuating the signal at the origin, either in amplitude, or just preventing the excitation of so many muscle cells by inhibiting the part of the brain that activates them.

In addition, it might be reducing the amount of stress hormones in your body.

As I said though, pure speculation :-)

Just out of curiosity, do you happen to know what mutation you have? I used to have pretty bad hyperexcitability. I'm betting that is what was causing your pain. Maybe you would go to move and a few of your muscle cells would contract so hard that they nearly blew up, or actually did cause a rupture. It still happens in my calves when I try to stretch them in bed and I always realize the error of my ways too late when the only thing I can do is try to lay completely still and try my best brace myself without tensing my muscle, for the impending pain. Each time I think "This is it, I'm going to tear it!" but 10 seconds later it's fine.

Type of Myotonia: Becker

Country: USA

Thanks Jenna, I have a mutation in the clcn1 and one or more DNA variants of unknown significance

Type of Myotonia: Becker

Country: U.S.A.

Dave:

Did you post the exact mutations a few years ago? If you're the right Dave, then I think you have two of the same mutations I have. F413C, and then, the one of unknown significance, a C to T transition at nucleotide position 1392.

I can't help but wonder if that mutation of unknown significance is responsible for our atypical symptoms.

There was a study a while back which documented someone with the other disease causing mutation I have, and this same C to T transition, who was symptomatic even though the disease causing mutation was thought to be recessive.

One theory put forth to explain those with single recessive mutations who still have clinical symptoms is something called "copy number variation". Essentially the section of the gene with the mutation is copied and integrated into the chromosome, so you have the same mutation on the same chromosome twice.

Maybe this unknown mutation is a marker for it. We should see if someone wants to do a study on it :-)

Type of Myotonia: Becker

Wow Jenna, what a memory! It is me. I don't have time right now to write about my past 5 year journey but, I will get back in a few to compare notes.

Type of Myotonia: Becker

Country: U.S.A.