Questions about TAM

[kilerb]

Hey there...  I'm almost 48 years old.  When I was young I had issues with walking on my toes.  The doctors weren't sure what was up, and when I was 13 they lengthened my achilles tendon on my left leg (In hopes to make me walk heal/toe) and took a nerve/muscle biopsy when they did that.  All these years I never was told I had TAM.  I don't have cramps or muscle pain.  My legs have just been getting weaker...  Over the last few years, going up steps and getting up have been more difficult.  Figured it was because I wasn't that active.  Started physical therapy to get my strength back.  The referring dr and physical therapists suggested I go to a neurologist.  I had always remembered my mom telling me that when they checked my muscle biopsy that my "muscle fibers were reversed."  Probably the way they explained it to her.  I just went back and looked at my old records.  Low and behold, right under the muscle biopsy area it said "tubular aggregate myopathy."  I can tell that I've been pretty luck in terms of seeing other people's experience with this condition.  No pain, nothing to noticeable.  Just a different type of walk and weakness in the legs.  Which is what I'm really worried about.  It says in most of the literature online that it "worsens as you get older."  Which has been the case.  But does that mean my legs will continue to get weaker and weaker as I get older?  Can I reverse this by working out more?  I noticed it said this effects type II fast twitch muscle fibers...  Could I continue working out and possibly compensate my strength by building up strength in my type 1 slow twitch fibers?  Or am I definitely just going to get weaker and weaker with time?  I fall sometimes going down inclines or larger steps if I'm not really thinking about my foot placement.  I know from reading that it really effects everyone differently...  So these questions might not be answerable...  But figured I'd at least check in with the board (assuming people still check in here...  Haven't seen many posts in the last number of months) and see what people with experience might think or give educated guesses in regards to the situation.  After reading about it and comparing it to my situation, obviously I'm scared and worried.  I don't know if there's anything I can do, or if there are ways to combat the weakness in the legs.  Do all people with TAM end up in a wheelchair at some point?  I'm attempting to go see a specialist at USC that the neurologist recommended.  Trying to get an appointment.  Anyway, if anyone sees this, thanks for reading and hope to hear from you.  Thanks!  -Brian

[georger]

Hello Brian, welcome to the forum.

Although this forum looks inactive, I check for anything new most days and I'm sure others do too. So if you post, it will probably burst into life.

You ask some very sensible and very difficult questions. As you say the difficulty arises from the enormous variability of TAM. Last time I checked, 3 different mutated genes had been discovered, plus many differing mutations within each gene. Like you, I’m one of the lucky ones without the muscle pain or cramps that plague so many others. Similarly, mine started with weakness in the legs and I thought I was just not fit enough and I exercised more and more and did a lot of damage. Exercise intolerance does seem to be a feature of TAM. The neurologist who made my diagnosis knew about this and said, “Pace yourself” and that was very good advice. On the other hand some people benefit from gentle progressive exercise. By that I mean something like walking a certain distance that you’re comfortable with, say every day. After a week or more, increase it by 5 or 10% and so on. Only you can be the judge of how you are going. If you get into post exercise muscle soreness, you may have done too much. I think that we are just like everybody else in that there is an optimum level of exercise, but sadly it’s at a much lower level. Very gently stretching contracting muscles can help too. I’m walking better now because I have spent a year gently stretching hamstrings and hip flexors.

What’s really missing in the medical literature are detailed accounts of how TAM progresses over a lifetime. It seems from what others say that everyone deteriorates with time, which in general is what you would expect. Some of us have had significant reversals, but the general direction is down. There is a Facebook page where Al Siewert details a concoction that he takes and benefits from, but I haven’t heard that it has helped anyone else. Years ago I had a near miraculous improvement when I started taking verapamil which I still take, but I’ve deteriorated since then. I don’t know of anyone else who has benefited from verapamil which is odd because the scientific basis of it is sound.

I guess everyone is going to need a wheelchair if they live long enough, but my impression is that there are many contributors to this forum who are still walking to a very useful extent. It would be good to have a discussion about this.

Sorry that I cannot be more specific. You are the expert on your variety of TAM and your own history is probably your best guide. I have to say that TAM is very far from being the worst muscle disease and most adapt to it and have useful and fulfilling lives. Will that last statement cause an outcry? We’ll see.

Let’s hear how you go and what helps and what doesn’t. We’ll all learn something from this.

[kilerb]

Thanks for the reply, Pete. When you say "I guess everyone is going to need a wheelchair if they live long enough..." Do you mean every human on earth or people with TAM?

Just out of curiosity, how old are you? When did you find out about having it? Do you think you've had it your entire life?

I've been reading online about it. Apparently someone had it cured with steroids? I also was reading about myostatin blockers promoting growth of skeletal muscles. Ever try either of those? Any luck? What does the verapamil do? Any side effects?

Off topic, most forum boards allow you to receive an email notification if your post gets replied to. Didn't see that option on here. Am I missing it? Thanks!

[georger]

Hello again Brian,

Yes, notifications are a bit obscure. Try: profile (top menu), edit profile (on the right) and notifications tab.

Wheelchairs? I meant both. I'm a volunteer at an aged care home and everyone there who has lived long enough needs some sort of mobility assistance regardless of any disease process and of course this would be accelerated in people with TAM.

I am 20 years older than you and 1st symptoms were about 20 years ago. It took a few years to get a correct diagnosis. I still chuckle at the 1st diagnosis of fibromyalgia and when it clearly wasn't that, atypical fibromyalgia. As we know TAM is caused by a genetic mutation, but whether it is always congenital or acquired I don't know. Maybe both occur. My understanding of genetics is not good, but it seems that mutations arise spontaneously over a lifetime as a result of faulty DNA replication.

There's only the one reported case of a cure with steroids in the medical literature as far as I know. This was the 1991 report by Gilchrist in Muscle and Nerve. You would think that if there were any other successful treatments with steroids in 27 years it would have been reported. I did try high-dose steroids in the early days and the problem was that they made me feel really good which masked the fact that there was no effect on the muscles and I probably exercised too much and did more damage.

Haven't heard about myostatin blockers. As to treatment by verapamil, this was originally based on research by Russell Lane published in September 1986 Muscle and Nerve - A double-blind, placebo-controlled, crossover study of verapamil in exertional muscle pain. As I remember it, one of the patients had tubular aggregates without a formal diagnosis of TAM. We know that TAM is caused by a gain of function mutation in various genes that control calcium ion influx into muscle cells and it is thought that the cells attempt to combat this by locking up calcium in tubular aggregates. Verapamil is a calcium antagonist intended to control high blood pressure. I have only heard of one other with a formal diagnosis of TAM benefiting from verapamil. He ceased using it because of side-effects which I cannot recall. The only side effect that I have had is the classic one of constipation and this is easily dealt with by eating lots of fruit and veg which is what we all ought to be doing anyway. Similarly, if there are other successful cases, you would think that we would have heard about them. Such is the very variable nature of TAM.

This is all very serious. We need to hear from Craig to lighten the mood.

[kilerb]

Thanks for all your info and replies.  Just out of curiosity...  What are your limitations?  Can you run?  Go up stairs?  Walk long distances?  Was there ever a time you couldn't walk?  (Sorry for all the questions...  You're the only person I'm in contact with that has something so similar to my situation.  No cramping, just weakness etc...)  For me... I can't run...  Steps that aren't very high I can do pretty well/easily.  Once they get to be a bit steep or if they're are a lot of them, I'll use a handrail.  I don't have problems walking long distances, even though I don't normally walk that far anyway.  Sometimes if I don't think when going down a larger step my legs will buckle and I'll end up on the ground.  Hard to get up without something to hold from the ground. 

Do you think you've had this your entire life but just didn't check until you were symptomatic?  Reason I ask is because as I mentioned before...  I actually have a muscle biopsy from 1983 saying I have it.  I always knew my legs were semi-weak, but I assumed it was from inactivity.  I actually thought that was the case until last week.  I never even really investigated the old biopsy results because my mom just told me that the dr just told her that my "muscle fibers were reversed."  Probably how they explained it to her in laymen terms way back when.  So I assume I've always had this if it was present in a biopsy from 35 years ago.  How bad was it 20 years ago when you initially went in for a diagnosis?  What made you think you should get checked at the time?  

In terms of exercise, I've been going to physical therapy for about 2 months now.  Afterwards sometimes the steps at my place feel a lot easier.  Probably because I was doing exercises with resistance.  I don't know.  But now that I have found out what I've got, I'm wondering if I should be going to PT.  Should I exercise for an hour like that?  I don't feel much pain after.  I wish there were more specialists with this so they can give me an idea of what to and what not to do.  

Anyway, again...  Thanks for your time

[georger]

Hi Brian,

Limitations - mine are all self-imposed, to avoid the numerous disasters in the past when I did a lot of damage through over exercise or trying to train up resisting muscles. One of the many things that I did not realise in the early days is that all skeletal muscles are at risk. Naturally the muscles that work hardest are the first affected, usually the legs. But I know of one who did a lot of heavy lifting and it was his arms first. I feel that I could run in a kind of awkward shamble, but it would do so much damage that would be the last time I ever did. I can walk up stairs but not walk all that far. For longer distances I use a wheelchair which is not the tragedy that you might think. In fact it’s quite handy at times in that I can dash down to the shops without getting the car out. If I need to go further, the wheelchair goes into the car.

All this avoiding excessive exercise and stress on muscles, but still getting enough exercise to maintain them as they are sounds incredibly tedious. But it’s a way of life with great benefits and is trivial compared to what some others have to put up with. There have been a number of studies that have shown that an individual’s happiness is unrelated to their level of disability. This is completely counter intuitive but it’s all the usual things such as social/family situation, sense of usefulness and so on that matter. Mind you, a significant downturn can be an enormous blow to the morale for a time until you adapt to it.

Yes, 12 years ago, before verapamil, I could stand up but not walk a step. My brilliant doctor raised the verapamil dose gradually over many months, watching for side effects. Above about 300mg/day the effect was spectacular, but has tailed off over the years. But I’m still more active than I was 12 years ago and there are not many who can say that.

Cannot say how long I’ve had the TAs. I’ve only had the one muscle biopsy nearly 20 years ago. Until my 40s I could run, cycle and hike up hills, so there wasn’t a problem then. I’m sure it was attempting to keep up these activities that caused a lot of damage and a relatively sharp decline. What caused me to start on the long road to a diagnosis 20 years ago was walking up the hill with a man who needed a knee replacement. He was older and was doing better than I was. It wasn’t that bad, but clearly I had a problem and it wasn’t just that I was getting older. Many TAMites (Craig’s term) seem to become symptomatic in middle age but there are also congenital cases. I’ve been in contact with one who is in serious trouble in his teens and you really have to feel for him.

As to PT, you are the only one who can judge whether this is good for you. It may depend on how good your therapist is. There is some evidence that gentle concentric exercise is more beneficial than ecentric exercise, which makes sense because the latter stresses muscle more. This means that stretching shortening muscles has to be done gently and over time because it is inherently ecentric. Anyway that’s what I’ve found. Non-weight-bearing exercise in a pool may help. My rule is that if my muscles are sore at all, then I’ve done too much and need to take it very easy for a few days. But you may well be different.

As to specialists, the only one that I have met that knew anything about TAM was the one who ordered the biopsy and made the diagnosis and he has since left the country. Come to think of it, a lot of those I have seen have left the state or ceased practice. Craig would probably say that I drove them out.

Seems to me that you are doing well. You’re walking well and you are thinking about it and asking a lot of sensible (but difficult) questions. I think that you will be your own expert, knowing what you can do and what is unwise and what helps and what does not.

Cheers and thanks for the chat. Let’s know how you go.

[kilerb]

Thanks… So correct me if I’m wrong here… From what I’ve read, it doesn’t seem like anybody with TAM ever actually gets the effected muscles to become stronger. I know each person with this is unique and everyone is effected differently... but I don’t see anyone saying “I actually got stronger.” Minus the mystery steroids reversal in the 90’s. Which I don’t believe the individual was named or ever spoke up afterwards from what I can see. Is what I’m saying correct? Or is there a person or two or many that have claimed to have strengthened their leg muscles? I am new to all this and apologize if these are stupid questions with obvious answers.

Also, when it comes to “working out“ it seems like it could be a bad idea, generally speaking. You had mentioned that the muscles that are used the most are the ones affected the most. Legs in our case. That leads me to believe that you would want to use them as little as possible with TAM. Is what I’m saying is true for the most part? I’m asking because I work out for an hour twice a week at Physical Therapy… Primarily leg exercises. And so far after a couple months I don’t feel any improvement. I told my physical therapist about this situation. He isn’t very familiar but said in his opinion he thinks I should continue to work out… So if my quadriceps are weak, and can’t get stronger… At least we can improve on the supporting muscles like the glutes and hamstrings etc. but maybe those muscles are affected as well. The whole thing is just so confusing and I don’t know what to do. I don’t even know how to figure out what’s best for me in terms of improving/maintaining.

[georger]

We've had the examples of verapamil, Al's concoction and the benefit that some get from gentle progressive exercise and there will be other things that help some people that I don't know about. Clearly some people have had benefits in strength and endurance.

I think that just like anybody else, including people without TAM, there is an optimum level of exercise, not so little that there's no benefit and not so much that it sets you back. And only you can be the judge of this in terms of muscle soreness, strength and endurance. Someone explained to me once that with a chronic condition your relationship with your medical folk changes. With an acute condition, you go along and put yourself in their hands, they tell you what to do or what drug to take and hopefully that fixes it. With a chronic condition it's more of a cooperation and even more so with something as rare and variable as TAM. It's highly likely that you will know more about the disease than most of the people you consult and only you can know how you are going. This can be very tough, particularly in the early days, because rather than handing over responsibility to professionals, in large part we have to take up that responsibility ourselves. That's why this forum is so important.

We should be particularly grateful to the Lane family; to Russell for the verapamil research and to Craig for this forum.

[kilerb]

Thanks... I understand what you mean. In terms of verapamil, that helps with pain, correct? Not reversal or strength building?

[georger]

Verapamil partially reverses the effect of the disease in that it reduces the excessive influx of Ca++ ions into muscle cells. And that's only in the variety of TAM that does respond and that may be only a tiny minority. So with the disease backed off to some extent, you can gain strength and endurance by exercise within careful limits over time. So verapamil does not primarily help with pain, but the increase in function does mean that you can exercise more without getting into muscle soreness. My own rule is that if muscles are sore at all then I've done too much, but everyone is different.

[kilerb]

Thanks... So weird. In my case I don't have any muscle soreness. I can work out all I want. (It seems, at this point.) I just don't seem to get stronger... Granted it's only been a month of physical therapy twice a week so far. I'm just worried that I shouldn't be working out because I'm doing damage after reading some things about TAM. I have no way of knowing if what I'm doing is helping or hurting it seems. I don't mind going at all. I just want to do what's best for my situation and I have no clue what that is. Am I wasting my time doing all these leg presses and band exercises? If I don't have any pain should I go as often as I can? I know you're not a doctor and every case is different. But since you're one of the only people I'm aware of with decent familiarity, I figured I'd see what your thoughts are on my situation. I did get an appointment today for that doctor at USC, but it's not until January 29th. So I guess I'm trying to figure out what to do in terms of exercise between now and then. And if pain isn't a factor at this point, would verpamil be a good idea? I guess it would need to be prescribed anyway... Well, thanks for dealing with all my questions and worries. Much appreciated.

[georger]

Yes, weird is the word. As I understand it, exercise for you is neutral in that it doesn't help or harm. If you are doing damage, you would expect muscle soreness. Yet another variation on TAM I suppose. If you could see me, you would see a lot of shrugging and handwringing because I haven't got a clue as to what to say next. Maybe that's why no one else has chimed in on this thread. Maybe if you don't mind going to PT and your therapist is very supportive, keep going and see what they say. Let's know how you go with your appointment in January.

Thanks for the chat. You've taken me way back on memory road and and reinforced my feeling of gratitude that I am functioning so well these days with significant improvement in the last 18 months.

[kilerb]

Oh nice! That's great to hear. I thought you said Verapamil helped you reverse some of the effects but then stopped working and then deteriorated since then. If that's the case, what do you owe this last 18 months of reversal to?

And thanks, I'll definitely let you know what they say after the appointment at the end of January.

[georger]

I've often been wrong, but I think that verapamil did not cease to be effective because I am still benefiting from it. Probably it was just that TAM progressed and possibly I did too much in the absolute joy of being so active again. Who can tell? Similarly, I'm not absolutely sure why I've improved. It could be stretching contracting muscles 3 times a day and gradually becoming more active or drinking a large amount of beetroot juice which has an effect on muscles via the nitrite content or replacing sodium with potassium in my diet. Whatever the reason, it reinforces the motto that you should never accept that there is nothing you can do.

[kilerb]

I'm not accepting that. Why do you think I'm pestering you for info on a daily basis

How active were you after initially taking it? Were you running around or just able to do more daily tasks? You said you've never had the cramps/pain symptoms, right? So you must have gotten stronger? I've had a couple people tell me it's not possible to get stronger. :/