Tubular Aggregate Myopathy

[GeorgeR]

BrainTalk has been a very important forum for bringing together TAM folk but the thread seems to have been deleted. Always very happy to hear from other TAM folk and their families, see these websites for contact info:
http://tamopathy.mysite.com/
http://www.tubularaggregatemyopathy.info/

Cheers, George

[Tootsie]

George,
I don't know what tubular ??? is and have never heard the term. Perhaps you are not aware that this entire site was disabled for most of last summer. Much information was lost in spite of efforts to retrieve it all. Don't give up.
Others will find you if you stick around! Cheerio.

[GeorgeR]

Thanks, tubular aggregate myopathy is quite rare and I have not ever met anyone else with it but (via BrainTalk initially) 5 folk with TAM and their families from the US, UK and Australia are in touch. Between us we know a fair bit about this disease, certainly more than our doctors. Always happy to hear from more TAM folk and share information.

George

[Tootsie]

You might want to keep posting, checking in from time to time and also give your contact information to John Lester, and/or others who keep these forums working. Be assured that at some time, there will be someone desperate for your support and knowledge. Cheerio.

[AjayK44]

Thanks, tubular aggregate myopathy is quite rare and I have not ever met anyone else with it but (via BrainTalk initially) 5 folk with TAM and their families from the US, UK and Australia are in touch. Between us we know a fair bit about this disease, certainly more than our doctors. Always happy to hear from more TAM folk and share information.

George


I am from the UK and have just been diagnosed with TAM although a 2nd muscle biopsy is going to be done to confirm 100%. I would be interested to hear what symptoms you are experiencing and what if any treatment has been prescribed.

[GeorgeR]

Hi AjayK, sorry you have TAM, but good to hear from you.

TAM is so variable that everyones symptoms are different. These are mine: excessive aching and soreness of muscles after exercise. Similar to the normal response to exercise but grossly excessive and very slow to recover, in fact if the exercise is too much, recovery never comes and some kind of permanent damage is done and tolerance to exercise is further reduced.

I have had TAM for 11 years so have tried lots of different treatment. The best is Verapamil which has me out of the wheelchair and walking again. This does not mean that it will work for you but there are other treatments that have worked for others with TAM. I can let you have the details.

You may be told, as I was, "There is no treatment". This is complete rubbish, never accept it.

Cheers, George

[AjayK44]

Hi GeorgeR, Thanks for the information. I am currently waiting for a 2nd muscle biopsy to be done in London in order that more specific tests for TAM can be done on the sample.

The symptoms you describe are similar to mine. It started all down my right hand side with numbness, pins and needles and pain in the joints of fingers and toes. It is now spreading very rapidly to the left hand side as well in a similar way.

I am told that it only affects the striated muscles but I am also having problems with bladder function as well (urine retention and leaking). The bladder I understand is smooth muscle and therefore should not be affected. Have you heard of anyone with these symptoms as well?

I understand that it is also hereditary.

Best wishes

AjayK44

[GeorgeR]

Hi AjayK44

Sorry, I have not described my symptoms adequately. Have never had numbness, pins and needles or joint pain and it came on very slowly over years. Seems everyone with TAM is different. Mine is all to do with sore muscles after minimal exercise. Have never had raised CKs (or CPKs), myoglobinuria or abnormal EMGs, only TAs on biopsy. But finally I have found a treatment that works and am improving enormously. This is verapamil.

I have read all the medical journal articles that I can get hold of, and you are right TAM only affects skeletal muscle. TAM folk worry about their hearts but there has never been any mention of that. There is one recent report of respiratory collapse secondary to TAM; this is only one case in 30 years, rarity upon rarity and not a worry. Have not heard of bladder symptoms with TAM but a lot of TAM folk seem to have a range of other afflictions, some of them unexplained.

Is TAM inherited? The commonest form seems to be in males over 40 and is mostly not inherited. There is another form (amongst many) that affects women as well and is inherited. The genetic basis of TAM has not been isolated and it seems that it may arise from a number of different mutations and therefore TAM is very variable.

On the bright side, TAM is not the worst disease you can have, by far. The biggest downer is being told by the medical profession that they know nothing about it and that there is no treatment. There definitely is treatment that helps some TAM folk.

Hope you can remain cheerful, I have had TAM for 11 years and am still functioning and very happy with my life. Let's know how you go, I am interested.

Cheers

George

[AjayK44]

Thanks George - I will keep you updated on my progress once I have had the second muscle biopsy done. I am also due to see a uro-neurologist to check if the TAM is also related to my bladder issues. My neurologist is very proactive and investigating every aspect which is good. Chat again soon.
AjayK44.

[EricEnfield]

Hi AjayK44,
Why not join us on the premier TAM site follow the linkhttp://www.tamopathy.mysite.com
I want to take nothing from the guys here at Braintalk they helped us get started and GeorgeR is more than instrumental in keeping things going.
I am also in the UK You are not alone........

Craig

[calady]

I am a 69 yr. old female who has myopathy, I have the weak legs, abnormal EMGs and have had a raised CPk level recently. This is belived that this stems from a mutation of the muscular dystrophy, Duchene type that my son had, and sometimes as the mother's get older, this does show up. Right now I am receiving IMIG treatments for it and is seems to be helping so far. How different is this from what you have. Have not heard of your type myopathy.

Calady

[GeorgeR]

Hi Calady

Strictly the dystrophies relate to a dystrophin defect and there is no suggestion of that in tubular aggregate myopathy, so you have something completely different to us. If your son had DMD then you know all about the MD Association; very good folk here in Australia and have heard similar about MDA in the US. Have you talked to them? Should be a forum for this on BrainTalk, if not why not start one? This is how most TAM folk first got together. Assuredly there are other folk like you out there.

Sorry, cannot be more helpful, hope that you find something that benefits you.

Cheers

George

[GeorgeR]

BrainTalk has been very good at bringing tubular aggregate myopathy folk together but we have since migrated to Craig's Tamopathy forum http://www.craiglane.proboards77.com/
There you will find discussion of specific treatment which helps some of us dramatically.

[smithdzn]

I have a fairly new diagnosis and have been receiving successful treatment in the US now for about a year. I am having trouble with people even believing that I have something that "they've never heard of" -even family members. That's the most frustrating of all -because of course, it's all in my mind you know. Anyone else having this problem? So frustrated today about this in particular, not to mention that I can't always play with my kids because it might set of a series of cramping and discomfort -that also will be all imaginary...

[Kira]

I don't have TAM but do have a severe myopathy caused my my mitochondrial disease (Complex I Deficiency, due to a mtDNA mutation in the gene for NADH Dehydrogenase 5). So while I can't help with specific info on TAM I can relate to the symptoms you guys are talking about, which are almost identical to where I was at a couple of years ago... severe muscle pain with even minimal exertion, elevated CKs and myoglobinuria, rhabodmyolysis, etc. I have had a lot of progression recently of other issues related to my mitochondrial disease, since it affects multiple organ systems.

I can definitely relate to what you are saying, smithdzn, about family & even medical folks not understanding what you are going through. People have this mistaken idea that it isn't a big deal because it is "just" muscle pain and therefore it must be like the kind of muscle pain THEY get when they exercise too much or are achy from the flu or something... but it is NOT the same type of pain at all, hurts much worse, and can really interfere with even basic activities no matter how badly you WANT to be able to do things.

I get so frustrated when people don't understand, but I think they just really can't relate to it because when they get muscle pain it IS minor. What people don't realize is that comparing muscle pain from a serious myopathy to "normal" muscle pain is like comparing a broken arm to a mildly bruised arm... in both cases, the same body part is affected, but "our" muscle pain (or the broken arm) is so so so different than "normal" muscle pain (or the mildly bruised arm).

I found that it helps some to give family & friends concrete examples of what you are feeling or what you can't do, and to keep gently but firmly telling them "I can't do that" as many times as it takes until they get it (some seem like they will never get it, though). And I try to explain what is actually happening with my disease in simple, clear terms as best as I can. With the pain, I have found that it helps some to let them know that I KNOW what "normal" muscle pain feels like, that this is nothing like it, and then describe this pain relative to that pain that they DO know... compare it to the pain you get with the flu or what it feels like after exercising or whatever.

It isn't easy, though, and sometimes I feel like I am wasting my breath. I will keep trying to get my closest family & friends to understand -- and some of them seem like they're getting it -- but there are honestly some people I have all but given up on. It isn't just family & friends, either. I have had a lot of trouble getting healthcare providers to understand, too, and some of them will never understand either. This is particularly hard when I am sick and NEED them to pay attention. I have worked really hard to put together my current team of doctors, who do seem to get it... but this continues to be a problem when I am sick and need to go to the hospital, because then it is up to chance whether the doctors & nurses you get will have even heard of mitochondrial disease, much less understand or care. Fortunately (or unfortunately) I am getting to the point where I have been in the ER & hospital enough that I have been taken care of by most of the ER docs and hospitalists here. It does help to have a concrete diagnosis ("I have a mitochondrial disorder called Complex I Deficiency" rather than "I have xyz symptoms but no diagnosis yet"). It helps to be able to say "it is rare" and to be able to tell the medical folks that my mito doctor wants to be called when I am in the ER or admitted to the hospital, because then HE can tell them what to do so I don't have to do it myself and offend them. I have learned to tell them "I am having a flare of my mitochondrial disease" rather than "my muscle pain and fatigue are really bad today" (though in my case other organs are usually affected by flares as well)... sounds more legitimate and is just as true. But it is hard and can be soooooo frustrating when they don't get it. I kind of wish that if I had to have a crappy disease at this point in my life, it could at least be something more common so I wouldn't have to deal with this aspect of being sick. I am so tired of being an "interesting" patient, you know?

[GeorgeR]

Being taken seriously with TAM pre-diagnosis can be worse in some ways because often there may be none of the usual markers of muscle damage. CKs may be normal, there may be no myoglobinuria/rhabdomyolysis and EMG may be normal. When you do have a muscle biopsy and TAs are found you are still not out of the woods because some medicos believe that TAM is not a proper disease at all. This is because TAs may be found in quite a range of disorders other than TAM plus the genetic mutation or mutations responsible for TAM have not been found.

John Morgan-Hughes has been the top researcher in the UK on TAM. I used to carry around this medical journal article of his to show doctors that I have a real disease. It seemed to work.

Curr Opin Neurol. 1998 Oct;11(5):439-42.
Tubular aggregates in skeletal muscle: their functional significance and mechanisms of pathogenesis.
Morgan-Hughes JA.

The article lists disorders associated with TAs, one of them being "exercise muscle pain and cramp" which we know as TAM. See www.tubularaggregatemyopathy.info for citations and abstracts of other articles that you may find useful.