Tubular Aggregate Myopathy is a rare primary myopathy. The commonest form mainly affects middle aged males and is not inherited. Other forms affect both sexes and may be inherited.
My son ziggy has recently developed double vision, even with his new glasses its still there. I myself have had bit of a vision downfall, partially due to age but they think more the TAM has affected it. Ive been trying to find out more but theres not really anything in reports.
Sometimes I get visual migraines. But it's usually an aura that I see, and it goes away within a half hour or so. My TAM is caused by an ORAI1 mutation.
I have developed double vision along with the other typical symptoms. Anyone else have eye symptoms?
Just had biopsy diagnosis of Tubular Aggregate Myopathy made. Does any one knew a physician or center that treats this?
Thank you for your story. I told him about the therapies you have tried. Honestly, I thnk the thing that helped the most is the fact that you have lived with this for so many years. He has only had symptoms for a few years now and with such a rare illness the future can seem so uncertain. I understand that it's just managing the symptoms as best as possible as they come and go. I wish you the very best and will check in with you from time to time.
Hi Jeanie, No I don't mind you asking. Yes I have TAM, first symptoms in 1997/1998 and not diagnosed until 2002. There are a handful of people in Australia with this disease but I have never been able to contact them. I have been in contact with others in the US and UK via BrainTalk initially and then via Craig's forum listed previousy. Your concern to help your brother is creditable. Often I think that our families are of more help to us than our doctors. My wife was a medical librarian and with her help I have researched the medical literature. The fact that TAM attacks the muscles' ability to recover from exercise was confirmed in an article by William Schubert in the Jan 2007 issue of the American Journal of Pathology. What has helped? Very very gentle exercise, even better in a warm hydrotherapy pool. Maybe talk to a good physiotherapist about concentric rather than ecentric exercise. Increase gradually over months not weeks when you are comfortable and have no muscle soreness. I get muscle shortening and physiotherapy has helped. Some drugs help, verapamil at 360mg a day is the only one that has helped me. God luck.
Hi shane. I am the mother of a boy who was last year finally diagnosed with tam. Hes 9 years old and his symptoms were present at birth causing complications and has been present throughout his 9 years. All his muscles not just skeletal r effected as it sound like yours. My sons specialists have neva heard of tam and so far seems like ziggy is the only person noted to have tam. I am interested in knowing ucsf clinic is and would like to know how u get on through it. My son does get occasional muscle pain mainly in legs.does meds help ease pain at all?
Hello Denholm, Thank you for reaching out. That is interesting that you and your mother have it, but it makes sense. Supposedly it is very uncommon to have an inherited myopathy with primarily asymptomatic immediate family members. My digestive issues started a few years ago. I am not able to keep down solid food for the first part of the day. I spent a year on mostly liquids a couple of years ago. I also have abdominal pain on occasion that is comparable to my muscle pain (which is obviously pretty painful). There are also some issues with my stomach and its ability to close. What sort of problems are you having?
Hi Shane, My name is Denholm and I am 17 years old. I have Cylindrical Spiral Myopathy and my mother also has it. You may have heard of it before and there seems to be a close relationship between cylindrical spiral myopathy and tubular aggregate myopathy - cylindrical spirals and tubular aggregates are both membranous in their structure and have similar staining properties. I have had it from birth. At 5 weeks of age I started to have respiratory problems and I was also noted to be very floppy at this time with delayed motor development. Physiotherapy was very beneficial for me. When I was 3 years of age my Mum and I had a muscle biopsy as she also had signs of having a muscle disorder, and these were referred to one of Australia's leading muscle experts at the time. Muscle pain and fatigue was a significant problem for me growing up and it still can be now, especially after exertion although it has mostly stayed the same and has not worsened, at least not yet. It is interesting that you mention digestive problems. I have also had digestive problems. What issues are you having?
You have done really well if you have managed to slow the progression by avoiding over exercising. Many do not. I have been careful, but not careful enough. Hard to know your limits unless you exceed them occasionally. See "IGBMC":http://www.igbmc.fr/society/actualite/85/ Might be useful to point your new doc to this to show that you have a real disease. I sent my DNA to IGBMC and very soon had the reply that I do not have a mutation in the STIM1 gene. They are looking for the mutation that I do have and I suspect that this may take years. My contact is the researcher Dr Johann Böhm and rather than broadcast his email address, here it is on the bottom of this website for "an unrelated myopathy":http://centronuclear.org.uk/theinformationpoint/newsletters/2011/2011_2/new_research_project.html I cannot point to any research on this, but it is my impression that TAM that runs in families with some cases of fairly early onset has roughly balanced incidence between the sexes. But single cases of middle age onset do tend to be predominantly male. On the other hand, I am frequently wrong. Besides the calcium channel blocker and avoiding over exercise, what have you found helpful? Thanks for the chat.
By ignore, I really mean I have not been actively treating, which I know is risky. I have had symptoms and pain and suspect my tolerance for such is high, having been misdiagnosed for so many years prior. My form is exacerbated by exercise, so I've basically been sitting as stationary as possible for six years. I have not contributed a DNA sample to the research at IGBMC -in fact I don't even know what the acronym stands for. I'm willing to, just need to know how. Getting connected to a doc here soon, as I moved and hopefully will not have to start all over again. So far, so bad with that hope though. I think we've chatted before George, hope all is well with you. Are there more females in the group now? I recall being the only one last time we chatted.
Well if you have managed to ignore TAM for 6 years, you have done exceptionally well. As you say, calcium antagonists are the big ones, particularly verapamil. In the earlier years gentle progressive exercise can help as it does for quite a range of such maladies. Hydrotherapy and physiotherapy can also be helpful. Gentle stretching, possibly after heating muscles, can be necessary to counteract inevitable shortening of over-exercised muscles. There is a range of dietary supplements, mentioned by some, but little evidence of continuing benefit. People have tried a huge number of analgesics. Apart from those, we just have to adjust our lives to advancing disability with the help of suitable aids. And of course we hope for some advance in treatment from DNA research. Have you contributed a DNA sample to the research at IGBMC? I guess that none of this is new to you. Anyone else have any ideas?
Hi Eric, When I fought the disease, there were aches and sore muscles, say 5 out of 10. So nothing like as severe as others have reported. Powerful analgesics did not help much, but reduced exercise did. This leads me to think that I am very fortunate in having a type of TAM that is not hugely painful but on the other hand is fairly disabling. Had a bit of good news today. My wheelchair has been sounding as if an expensive gearbox needs replacement. Not so, they think it is only a relatively cheap castor and I should have it back tomorrow. Thanks for the conversation.
Thank you George, I appreciate your effort. How painful is it to you? Seems to ache pretty bad all the time. How about you? I take hydrocodone, it helps somewhat. thanks Eric
Hi Eric, I have had symptoms of TAM for about 18 years. At first I fought it with increasing amounts of exercise and for a while it even seemed to help. But I did an enormous amount of damage and the disease worsened rapidly. Now I take it easy, listen to my muscles and progression is very much slower. These days I can walk short distances but otherwise a wheelchair is the go. There have been 2 reversals in the progress of the disease that I should mention. While too much exercise is damaging, gentle progressive exercise can help. This is often recommended for all sorts of myopathies and pain conditions. It involves gentle exercise such as walking on the flat, increasing the distance every week or so whenever you feel comfortable. The other is Verapamil which is the only reason that I am still walking. There is quite a bit of discussion of this on the Tamopathy forum. Best wishes, George
Hi Bob, There are hundreds of causes of chest pain, so you need a referral to a doc competent to diagnose this. Good luck.
Hi. I am new to this community, and to TAM for that matter. I was diagnosed only 2 years ago. From all of the research I have done and all the doctors I have spoken to, not much info on TAM is available. And most of the doctors I have seen have not even heard about it. So when I recently told my doctor (muscular neurologist) about the heart issues I have been experiencing, she couldn't really say whether it was TAM related or not. When I am doing any type of physical activity, such as working with my arms over my head, or pushing a heavy cart, I get this crushing pain in my chest. It feels like I'm being squeezed by two vices- from the sides and from the front and back. It lasts 15 to 20 seconds, and there are no other symptoms, such as tingling in the arms or jaw numbness. So I told this to my doctor and she didn't know what to say. Anyway, I thought I would put this out there, in case anyone else has similar experiences.
Jeanie - I'm experiencing very similar things to your brother. If you're still watching this forum, I'd be interested in an update. Personally I think that while TAM is traditionally assumed to only affect skeletal muscle, I get the impression there are multiple forms. I have significant central apnea (breathing fails once a minute on average, sometimes for 30 seconds, sometimes much longer, day and night other than when I'm in REM sleep oddly enough) and in addition to that my heart slows down to about 15 bpm once an hour (again, other than in REM sleep). No one has any explanation for me as to why this is happening. It does not appear to be related to the medication, and it does appear to have started after my TAM became significant. My spinal cord is also breaking down so I don't know if this is affecting my nervous system in some way as well, or if they're completely unrelated issues... I mean, TAM is rare and variable enough that it's not unreasonable to imagine there could be a variant that affects both muscle and nerve tissue -- they are related tissues...
hi snowrail, thanks so much for your post. my brother has been through a few sleep studies also. he sleeps with a c-pap machine. it's been a year since my post asking for info from others and still we have no answers from his docs as to why his heart rate slows so much at night. he is not on any meds for the pain from the TAM. he doesn't like taking them, it always seems they make him feel worse. i was not aware of apnea related brain damage and will certainly do some googling on that. it's all still a mystery...always more questions than anwers. i just wish there was more research being done or more docs that offer answers/treatments. TAM seems to have such different effects on everyone. my best wishes for all of you.
Interesting. I'm having trouble with breathing as well, although it doesn't sound like it's as bad as yours yet as my oxygen levels have not been dropping below the 80's, not that this is good either. It was picked up in a routine sleep study that was done as part of the escalation of the opiates (methadone) that I take for the pain from the myopathy, which in my case is quite extreme. My sleep was excellent, but the study picked up central apnea, where my brain was simply not sending the signal to breathe. Now it also appears to be happening to a lesser extent while I am awake as well. At first they thought it was due to the opiate, and while there is some possibility that it's making things worse, it does not match the profile of opiate induced central apnea. And unfortunately that's where I'm stuck right now, without any more answers. Mystery central apnea. I have been experiencing increasingly troubling neurological effects and until more studies are done (awaiting CT scans since I can not be MRI'd due to metal in my body) we have no idea if it's TAM-related, apnea-related brain damage, or even psychiatric in nature (it's not as if this hasn't been stressful, although I'm generally a happy person). So I don't have a lot to add other than to say it's interesting to see other people with tubular aggregate myopathy with breathing problems, and wanted to add myself to that list for other patients and doctors reading this. Thanks for sharing your story.
The symptoms had probably started a year prior to actually going into the hospital. It started off just being more and more tired and feeling like I just could not get enough sleep or rest. I found that I could get up in the morning and take a shower get dressed and have a cup of coffee and be ready to go back to bed at least a month prior to going into the hospital, I started going home after work and blinking my eyes and then my son would wake me up 2 hours later telling me to go to bed when I did not realize I had even been asleep at all. I would try to fall asleep at work standing up and was having a hard time remembering any thing I was told and I kept stumbling because my legs felt like 100lbs weights on them. I went to work on July 1st was talking to a customer and blinked my eye's and I was on the floor, my aunt took me to emergency and they put me on oxygen and a heart monitor, my my oxygen level was at 71% and I was on 4 liters of oxygen. Over night I stopped breathing and they attached me to a bi-pap machine that forces the oxygen in and out of your lungs for you. I was released from the ICU after 9 days and back on regular oxygen at 2 liters. I have a machine at home that sucks in air and creates oxygen that is in use as long as I am home and I have a small back pack from a small tank as a portable that I use when out and about. I am 1 to 2 liters of oxygen 24/7 and I do breathing exercises every day to help strengthen my diaphragm and my other muscles in my core. When I went to the hospital in July I found that even sitting up with pillows to breath and relaxing as best I could that I felt like I was suffocating and could not breath almost like a really severe anxiety attack, my son drove me to the hospital ER and I was admitted immediately and placed on 9 liters of oxygen and still felt as though I could not breath. The ER decided that they had already did what they could my 1st trip to the hospital and so they contacted Stanford and I was transferred directly. I was at Stanford and my oxygen was down to 5 liters and that night they had to tube me with the vent and 4 days later perform a tracheotomy. I am finding that because I am still not getting enough oxygen at night and have to turn it up that I wake up with a headache some times from not getting enough oxygen. I hope this helps you some.
Probably not related to your problem, but I have for a long time, had problems breathing during exertion. during any physical stress, I get the feeling of being unable to catch my breath, to the point I feel as though I may pass out. I was tested for Asthma, and tested OK. At that point, they did a chemical test, and said I have Exercise Induced Asthma. I never pursued anything after that, but the medications given to me did not hae any positive effect om me.
Hi Jeanie, I was diagnosed in 2004 after 2yrs of tests. Part of the follow up was breath tests oxy/CO2 saturation and all the other stuff that goes with it. I found that working within my limits(most of the time) decreases the symptoms although it often increases the frustration. Take a little longer to do thing and get places but, whats the hurry anyway. Rush around like a fool and spend the next few days/weeeks getting over it. Have you visited our site http://www.tamopathy.mysite.com There is a forum link there to. Georger is the mainstay and there a conections with the few others around the world who share this most interesting condition. I don't take anything medicine wise accept anti inflamatories which I have found ease thins when I have puushed too hard. I am fortunate to have a high pain threshold and a very stubbon constitution. I laugh at myself daily and am the first to poke fun at my inadiquacies. If you can laugh go for it it releases endorphins which help block pain.. ps see Pete I can be serious well.... nearly.
Hi George, I think i remember someone touching on the subject of verapamil. I think my brother may be more open to trying unconventional treatment now. I am going to suggest this to him again today and have him bring it up to his doc. Its funny you mention the nuero physiotherapists, my daughter told me tonight that she wants my brother to go to L.A. where she is a yoga therapist at a rehabilition clinic with Dr. Walker Ozar.. She treats many patients with with neuropthy/muscle tissue problems, many of whom are docs themselves. she has been having huge successes in helping these people with pain/movement and breathing. I think this may have to be a new path to try also. How have you been doing lately? My best to you
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.