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Post by Craig Lane on Jul 23, 2009 8:58:18 GMT
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Post by Alf on Sept 10, 2009 14:34:16 GMT
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Post by Alf on Sept 10, 2009 14:36:29 GMT
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Post by Alf on Sept 10, 2009 14:39:28 GMT
Stone the crows! It did it again. Just google "Genetic and Rare Diseases Information Center", search for tubular aggregate myopathy than click on "What is tubular aggregate myopathy?"
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Post by Craig Lane on Sept 15, 2009 18:49:29 GMT
Link works just fine. Thanx for adding it to the site.
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Post by George on Oct 7, 2009 23:03:19 GMT
There are other sites that are misleading or just plain wrong and one of the worst is Askville: askville.amazon.com/heard-Tubular-Aggregate-Myopathy/AnswerViewer.do?requestId=53904701st answer - OK as far as it goes, but many do not initially have weakness and many never have muscle cramps. 2nd answer - TAM is not a form of muscular dystrophy. Lack of dystrophin or the associated genetic defects do not occur in TAM. Confusion can arise because the various Muscular Dystrophy Associations support people with TAM, but then they support a range of other myopathies that are not dystrophies. The link mda.org/disease/mm.html and following text refer to Myotubular Myopathy/Centronuclear Myopathy not TAM. The link mda.org/publications/fa-myop.html and following text refer to hyperkalemic periodic paralysis and not TAM. The last link www.muscle.ca/content/index.php?id=575 is dead. If you do an extensive search on TAM you will come across the statement that 10% turn into amyotropic lateral sclerosis (ALS). Funny that none of these cases have been reported anywhere else. It is of course complete nonsense. |
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Post by Craig Lane on Jun 19, 2012 8:32:16 GMT
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Post by georger on Jun 21, 2012 7:47:28 GMT
Interesting article. Of course the Holy Grail of treatment for genetic diseases is to find the dodgy genes and then the gene therapy. Research of this kind is well under way for at least one of the dystrophies. Some genetic defects have been identified for some non-TAM diseases where TAs feature, but everything that I have read says that the genetic basis for TAM has never been identified and maybe will not be in our lifetimes. And given the variability of TAM, it's likely to be different genetic mutations between individuals or so a neurologist told me years ago. Added to that are the difficulties in researching TAM. TAs seemed to be associated with all sorts of different insults including alcoholism and toxic chemical exposure, so it's a fairly non-specific response. Then there's the extreme rarity of TAM; TAs are found in less than 1% of biopsies and only a fraction of those have TAM. So why research TAM when much more common diseases such as Parkinson's, Alzheimer's and the dystrophies have no cure?
That said, you've gotta have hope and I appreciate it that you are keeping an eye on the research. You never know.
That reminds me that I should watch again that great work of spirituality and deep meaning, Monty Python and the Holy Grail.
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Post by Craig Lane on Jun 21, 2012 9:05:53 GMT
We can all watch and learn at the knee of those who truly know "the meaning of life."
One day at a time.
Maybe it will be in our life time, my consultant told me that no-one has ever died from TAM, I have TAM therefore I should never die......
My father, who we suspect of being a Tamite but is content with being treated for his symptoms undiagnosed (although none of the medicine work; surprise) is now storming into his eighties ( actually shuffling is more acurate) So I have a way to go yet. Really looking forward to being a mennis at the supermarket shuffling about and being a pain in the arse of the common man. (Wife just looked over my sholder and said "You're aready there"). Doh!
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Post by georger on Jun 28, 2012 2:58:58 GMT
Have you seen this one about caloric restriction and TAs? www.springerlink.com/content/33443p531630k747/What we need is a human volunteer to starve themselves and report on the miraculous reduction in TAs. I watch what I eat, to reduce the burden on my legs, but cannot quite come at caloric restriction. |
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Post by Craig Lane on Sept 11, 2012 20:19:19 GMT
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Post by georger on Sept 17, 2012 9:06:05 GMT
Contrary to what I said above, the genetic basis for one or more forms of TAM has now been found. This is the STIM1 protein which is encoded by the STIM1 gene. There isn't full info, but it's not my form of TAM. It sounds as if it is inherited and "with mild and slowly progressive lower limb muscle weakness, upward gaze paresis and strongly elevated creatine kinase levels." Not me on all counts. www.ashg.org/2012meeting/abstracts/fulltext/f120123827.htmYes Craig, you were right and I was wrong. |
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Post by Craig Lane on Jul 3, 2013 20:07:40 GMT
Have to shuffle off and get Sian to see this. Me right, there is a first time for everything.
On the other hand it just makes each case significantly rarer. The more we find out the more isolated the case. Reminds me of an occasion when my son with his photographic memory at the ripe old age of about 6 had difficulties beyond measure in a class exercise to divide a page of animals into groups. For the first time the class had finished and he was still unable to complete the task. When asked by his teacher what the problem was, he pointed out that they were all in their own group one was a carnivore, one a herbivore etc through the page answer required only wild and domestic animals but his knowledge was such that he could only see them as isolated cases I suspect this is the way forward for us. The more we learn the more we will make more and more pigeon holes until the doctors wake one day to realize, we are individuals.
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Post by Craig Lane on Sept 26, 2014 10:22:24 GMT
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Post by georger on Oct 28, 2014 1:51:19 GMT
Thanks for those links. TAM 2 is new to me, but does not sound like anyone we know.
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