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Re: PT treatment

Mel,

As Joe mentioned, it is very important to know which type of ion channel myotonia he has. The sodium channel myotonias do seem to involve more pain and weakness.

But I will go ahead and adress your question as if he does have Thomsen's (if there is a family history it would not be Becker's). The problem is a delayed repoloarization of the muscle after firing...it can be up to 10 times longer than a normal person. Since the muscles are constantly firing the ATP is depleted much faster and then the muscle cells begin to break down. This is what causes the pain.

It's very similar to a bodybuilder getting "ripped" only in their case the body adapts by increasing Type IIB fibers. In our case we can begin to make those adaptive fibers and we even get muscle hypertrophy, but then they atrophy. In some people with MC they are absent. So every time we work it beyond our fuel capacity, we do muscle damage and CPK levels increase with proportional pain, stiffness and cramping.

Physical therapy is great for most muscle conditions, but for us it may even worsen the problem if the therapist is not aware of the root cause of the issues. This is not a condition where you want to push through anything. In fact one of the keys to reducing pain and cramping is to learn how to NOT resist. Just moving around for us can be like a major isometric workout. So for instance when we start to go up a flight of stairs, if the muscles become rigid because they are not relaxing and we force them to move, we are doing damage. If we pause when we feel the tightening and wait for it to let up, then we are minimizing damage.

I always advocate stretching, but it's not going to resolve any of the muscle issues. However it will help flush toxins out of the damaged muscle groups. The ones most likely to be affect will be the white fiber, fast-twitch muscles like quads,abs,etc.

ETPS is absolutely contraindicated. Regular acupuncture or acupressure is fine. Strength training is not going to help alleviate the symptoms. Weights should be low intensity and fewer reps. We can be very strong on initial testing, but because of the drastic potassium shifts on the cellular level you can suddenly lose all strength as if someone pulled a plug. This can be very dangerous when doing certain types of strength training, as you can imagine. I have not tried kinesiotaping related to MC. It has been wonderful for other types of injuries so maybe it's worth a try.

If your client is experiencing more problems with his hands after constant activity, then he is probably depleting glycogen and ATP stores. This is made worse by eating sugar, which depletes phosphorus. I don't think it does much good to tell a 15-year-old boy not to eat sugar,but it's worth a try :-) The pain he is experiencing is the "burn" a normal person would get after much more strenuous activity.

I have had some pretty good results using the amino acid Acetyl-L-Carnitine. This has a phosphorus-sparing effect and really helps with my exercise tolerance. He could probably take 1 capsule morning and evening and see if that helps at all. I haven't seen much help with creatine or other supplements.

Hope this is helpful. I am a personal trainer and post-rehab exercise therapist. As strongly as I believe in PT and a good exercise program, MC is extremely difficult to work with. Often the pain is delayed, so while you may get positive feedback at the time, it can cause severe cramping and pain for several days after a session. I think the major issue is metabolic...if we can find a way to correct that, then the other problems resolve.

Jan

Type of Myotonia: Thomsen's

Country: USA

Re: PT treatment - PS

I forgot to add that cold will make myotonia worse, but heat is a very good modality. I have a unit you may have seen called Aqua Relief. It is often covered by insurance. It is very helpful at reducing pain and cramping. I also use a heated mattress pad which reduces the tendency to cramp at night.

About the hand issues...years ago we had a small goat dairy and I milked the goats by hand. It was a killer! My hands would hurt so bad I would literally get nauseous and dizzy. Over time the increased circulation did seem to help compensate. I can see how drumming in particular would really tax the muscles in the forearm and hands.

I am also a painter and I find that if I can keep my elbow in close to my side the muscles don't fatigue nearly as easily. Perhaps you can help him find a way to paint so that his arm is not held up and out. He may have to move closer to an easel and anchor his elbow against his side, then move the canvas down a bit lower.

Jan

Type of Myotonia: Thomsen's

Country: USA

Re: PT treatment - PS

He does not put the painting on a vertical surface- he puts it horizontal to the ground. So having the elbow stabilized should be something feasible- I will look into that. Thanks!

Re: PT treatment

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!

Re: PT treatment

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 =).

Re: PT treatment

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

Re: PT treatment

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

Re: PT treatment

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

i want kmow a pain relief

Jenna
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: don t know

Country: egypt

Re: i want kmow a pain relief

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