Hi, I was told at 16 I has autosomal recessive myotonia and have been on dilatin ever since. It always affected my legs. I am now 36 and in the last 3 years my condition is getting worse. I end up in hospital every winter. I have no help from the doctors ( my Gp is the only real help)who seem to think it is everything but what I tell them, but they eventually listen and leave me to it, with warm beds, pain medication and oxygen for a week or so. What I need help with is, the cramping and stiffness is in my back now and my neck and I have problems breathing alot. I get very stressed - yes I know that does not help. I work, I have 3 kids and I dread the winters. My latest episode has been ongoing since June 1. I keep warm, I massage my muscles as much as I can, I take extra magnesium...what else can I do. Why has it got worse and where next will it go, it hurts to eat and breathe at times. I have had this all my life and like everyone have suffered for it socially and emotionally and I have finally got the courage or desperation to write this as I have had to always be hidden in this. I do have a specialist who really just keeps wanting to try different drugs which at my age with my young kids is not an option. I did trials when i was in my late teens and have stuck with dilatin ever since. I have read lots of these and I have watched the you tube video and cried and cried becasue I did not feel alone and it made it feel more common and real as it has only been just me with this. Can anybody give me some advice please? thank you

Type of Myotonia: not sure

Country: australia

Sam,

I can understand not wanting to experiment when you're trying to survive day to day, but Dilantin is seldom used these days because it's just not as effective as other myotonia medications. You can order Mexitil with a prescription from CanadaDrugs.com, and sometimes you can get your health care system to import it through the compassionate use rules. Maybe you could talk to your pharmacist about it.

Sometimes you have to try a few different medications to find the one that works best for you. A couple of other possibilities are Diamox (acetazolamide) which you may have tried since it's an older drug, Flecaine (flecainide), Lamictal (lamotrigene), and even the old standby, Quinine Sulfate. I don't recommend Tegretol (carbamazepine). I've just gotten too much feedback about very bad side effects.

I was just looking at warming vests online last night. I use a warming mattress pad at night, but it would be great to have something for daytime when I get chilled. This one looked really interesting...it works for 10 hours and has rechargeable batteries.

Warming Vest

You might check some motorcycle stores in your area and see if they have anything. I have also used ThermaCare Heat Wraps to help stay warmer in the winter.

Were you diagnosed by DNA testing or just by an EMG and family history? The cramping and stffness that is progressive sounds a little more like paramyotonia congenita. People with the sodium ion channel mutations do seem to be more sensitive to cold.

It is important to learn to control stress responses. The adrenaline bursts will make the myotonia much worse and cause panic attacks and difficulty breathing. I use deep breathing techniques I learned through biofeedback training. I also keep my sugar intake down because hypoglycemia will also cause release of adrenaline.

It often helps to take small amounts of magnesium, but too much can actually increase potassium and make you worse.

I have found that licorice root extract really helps myotonia. It would be contraindicated for anyone with high blood pressure, but otherwise 1-2 capsules a day act as a natural potassium diuretic and can relieve myotonia. You can get it in the herb section of the health food store.

Hope you can find some relief. I try to remember that those of you south of the equator are in the throes of winter!

Jan

Type of Myotonia: Thomsen's

Country: USA

Sam:

I agree with Jan that you should consider trying Mexiletine. You will need a cardiac workup first and it would be wise for them to monitor you as they start you on the medication and find the right dose, but most people on it for MC seem to do well.

You should also get the genetic testing if you haven't, and just have them do the full myotonic panel from Athena Diagnostic. This will sequence the CLCN1 gene to test for myotonia congenita, the SCN4A gene to test for sodium channel myotonias such as paramyotonia, acetazolamide responsive myotonia/potassium aggravated myotonia, and various forms of periodic paralysis, some which can involve myotonia. It will also test for myotonic muscular dystrophy type 1 and type 2. This is more expensive than testing for all of the disorders separately but they are finding that some individuals, especially those with atypical or particularly severe symptoms, actually have two different myotonia causing disorders.

One study found one family with both disease causing mutations on the CLCN1 gene, and disease causing mutations on the SCN4A gene, they had both myotonia congenita and sodium channel myotonia. Another study found a girl with a recessive CLCN1 mutation and myotonic muscular dystrophy.

It's important to do genetic typing because it can help determine what course of action for treatment would be best. If you have a sodium channel myotonia, then dilantin (acetazolamide) might indeed work better than Mexiletine, and you might benefit from a reduced potassium diet.

However, I have Becker myotonia congenita and I get the painful back and torso cramping like you describe and I find eating high potassium food can significantly help with that.

But then again if you have hyperkalemic periodic paralysis, eating a lot of potassium can be dangerous.

Other things I do to minimize the back and torso cramping is, I try to minimize doing tasks that require me to hold my arms above waist level for extended periods of time...I use paper plates so I don't have to wash dishes. I try not to sleep at an angle because when I had to due to acid reflux, it fatigued my torso and back muscles to the point of fatigue paralysis. I try to lean back rather than slouch forward in chairs (it's impossible for me to maintain good posture), and sometimes Advil helps but you really shouldn't take it every day.

Type of Myotonia: Becker

Country: USA

Hi Jan and Jenna
Thanks for replying to me it has made me re-think alot of things. I am going to start from scratch as I only had the muscle emg thing back in 1993 in London when I was living there for a time. Otherwise there has been nothing else done as I seemed fine to deal with it all. I was told at 17 that I couldn't have kids and I have 3 so things do change and they are all fine. I have spent so much time being a wife, mum and worker that I have completely forgotten about me. This latest horrendous episode has been the push I think I really need. I thank you for listening and replying and making me feel okay in all this mess. I appreciate this immensely and will let you know how I go. My mission starts tomorrow with seeing my GP and starting again.

Type of Myotonia: not sure

Country: australia

Sam:

I hope they didn't tell you you couldn't have kids because of the myotonia. Some males with myotonic muscular dystrophy are sterile but, but would be one horribly misinformed doctor if he thought you had MC!

Type of Myotonia: Becker

Country: USA

Hello Sam,

Mexitil worked really well for me but I can't get hold of it now. I've switched to Flecainide, something similar to Mexitil, and it is proving almost as good so far.

My neurologist is cautious about the dosage, I've just gone up to 2 x 50mg, but it definitely helps.

I hope you get your situation sorted asap; we don't need to suffer anymore than necessary!

Type of Myotonia: Becker's

Country: England

Hi,

I have just started on Lamictal 100mg in the morning and 100mg at night, feel bit sick and foggy but so far not to bad. Has anyone tried this one??

Type of Myotonia: Thomsens - we think awaiting test

Country: australia

Who put you on that? Was it a neurologist or general practitioner and did they re-confirm the myotonia first? Will you be getting genetic typing?

While certain anti-seizure medications are sometimes used to treat myotonia, they are not the medications of choice.

Type of Myotonia: Becker

Country: USA

Jenna, Dr. Lehmann-Horn had corresponded with me about lamotrigene (Lamictal) as a substitute for Mexitil when it became unavailable in Europe. Some patients aren't tolerating flecainide (Flecaine) well so he was interested in this as another option.

I mentioned it a few times on the forum and in private emails and have gotten some feedback that it is helpful. I think it is probably very similar to Dilantin, but is a newer class. But it also acts as an antidepressant which several people have mentioned they have in addition to myotonia. So perhaps it will be a good treatment for people who have both.

Sam, you do need to watch for a rash and if one develops, stop taking it immediately. There is a small risk of developing Stevens-Johnson syndrome (true of many anti-convulsants). It is less likely if you work up to the target dose slowly.

Jan

Type of Myotonia: Thomsen's

Country: USA

Thanks Jan and Jenna for your quick replies. I am seeing my GP again tomorrow and will discuss. I haven't got to the gentic test yet as there is a long wait and there are some options I need to sit and think about first. The public system here turns you into a guinea pig, I have done that when I was younger although it was humilating at least there were lots of access to info at that time. The private system way is super expensive and I have just been given one choice of drug in all of that. Once I see how lamictal goes for another week or so. I may just have to suck it up and go through the system..yuk, I mean I have had three babies and really what dignity is left after that .....so with that in mind I will tough it out. Thanks again to anyone who replies I feel so much better with this forum. all the best to you all!!

Type of Myotonia: Thomsens - we think awaiting test

Country: australia