Thank you so much for your reply!!! I found it extremely helpful. Thanks about the ETPS- is it contraindicated due to the fact that it involves electrical stimulation/current? I am not actually the one trained in it- my colleague is, and she sometimes sees my patients or trains me in very specific cases if she can not see them Thank you so much for the info about the supplement- I will tell my patient to talk to his doctor about it. From the little I read on the internet- I knew this was going to be VERY HARD to treat, so I really wanted some input. He is much weaker then I expected, so increasing the strength I know is going to be a great challenge. There is a lot to work on other than the hands- his p0stural alignment is way off- so I hope addressing everything else will have significant positive effect on his tolerance to painting, etc.. Thank you again so much. Have a great holiday!

Hi! I wanted to let you know that I have read my patient's full genetic testing report and it says that he has one known recessive mutation in CLCNI and one or more DNA variants of uncertain significance in the same gene, and it states that Recessive MCD is Becker's, generalized myotonia; OMIM #255700. I know you had mentioned that if there is family history- it can not be Beckers. Right now there is no symptomology on one side of the family, and the test says that the reason why he may still have the disease is because there may be the existence of a second mutation not detected because of its presence in a non-coding region on the gene, or the clinical symptoms are associated with other unidentified genes or loci, or the unknown variant is pathogenic. Of course, they are recommending family testing on both sides now =).

Mel,

A few of the CLCN1 mutations can be associated with both recessive and dominant forms. So possibly that particular mutation is one of those odd variants. If you have the exact information I can look it up or ask a geneticist about it. It's possible that there are two recessive mutations, but the odds of that happening in more than one generation are almost zero.

Fullerton Genetics will check for the particular mutation or mutations for much less than the original test. Their contact number is 888-810-2800 if the parents are interested in comparing prices.

About the ETPS...even though the amount of current is very low, it will probably be enough to cause pain. I have a microcurrent device that I use to treat injuries, and I can't use it on myself for even a very short time. TENS units are like torture :-0

If he is experiencing much weakness, it's a good idea to get a standing order for serum potassium and see if it is dropping too low. Although myotonia is worsened by high potassium, there seems to be sort of a rebound effect that causes the other extreme along with weakness. It can be hard to balance it properly. Serum potassium should be drawn without a tourniquet to get accurate results, and it should be done when the patient is feeling weak. Again, sugar will cause this paradoxical response to be more pronounced. I follow a diabetic/low glycemic index diet to minimize weakness.

Jan

Type of Myotonia: Thomsen's

Country: USA

I've sometimes eat a very high potassium diet because I feel it helps the painful cramps I get in my back and torso, and I think it helps with the weakness....I've not observed it to worsen my myotonia. I'm not sure though if my mutations result in trouble with hypokalemia or if they are insensitive to potassium either way and I just have a non-related pre-disposition to potassium depletion.

My grandmother, who doesn't have MC, has been found to be hypokalemic each time she has been in the hospital for unrelated reasons.

My mutations cause a positive open gate probability potential shift though, while I think most dominant ones cause a negative shift. I'm not sure what implication that has for other ions/ion channels.

Type of Myotonia: Becker

Country: USA

Mel:

I have Becker MC, which tends to manifest more in the legs or in a more generalized way than in the upper body, like Thomsen MC, and I only started developing problems with my hands later in life. There are a few different aspects of the disorder. The most notable is the myotonia itself, which is the delayed relaxation of the muscles. Personally I've found walking regularly helps minimize that symptom.

The difficulties I have with my hands, however, seem to be worsened with use. If you find something that helps him, please let me know!

Concerning other aspects of exercise and physical therapy, he might have to rest longer in between exercises, or even reps, because his muscles can't relax properly, and he probably gets a lot of waste build up in them. A lot of people with MC feel that stretching really helps them....I'm not one of them. For me, stretching as an exercise is generally counter productive because I have a bit of percussion myotonia and the tension causes my muscles to contract when they should be relaxed. I can get a little more flexibility but it makes the myotonia aspect worse.

I also have a lot of core body (torso/back/shoulders) stamina issues. This will eventually result in painful cramping, and muscle fatigue to the point of failure, if I don't rest the muscles when I should. I went to PT for hip/posture problems a while back and I was given core strengthening exercises to do, and while my core body strength did increase, and my abs were starting to look quite nice, my stamina in those muscle groups, with respect to doing every day things, didn't increase one bit.

Type of Myotonia: Becker

Country: USA

Type of Myotonia: don t know

Country: egypt

Maha,

The pain is caused by damage to muscle cells. By taking a medication that lessens the myotonia, you can stop some of the pain. But you also have to learn not to push against the stiffness. Wait for the muscles to relax if you can.

Here are some of the medications that have helped myotonia:

Mexiletine
Flecainide
Lamotrigene
Acetazolamide
Phenytoin
Carbamazepine (I don't recommend this one)
Quinine Sulfate

Ask your doctor about trying one of these. Also it can help reduce the inflammation from the muscle damage to take ibuprofen regularly.

Jan

Type of Myotonia: Thomsen's

Country: USA