the dysferlin website has a new address: http://www.dysferlin.org the site still exists on the previous address for the moment (if the server is functioning,...
BWilliams16@...
Aug 27, 2001 5:08 am
18
Hello, My name is Vikram. My brother in India is suffering from Miyoshi myopathy since 1996. Several docs have tried and given up on any kind of treatment. We...
Hi Vikram, Welcome to the group. As far as the prognosis of Miyoshi myopathy goes, the symptoms are progressive, although rather slowly. Typically patients...
I am a final year student at Brighton University (UK), studying social science. For my dissertation I am investigating how individuals with Muscular Dystrophy...
Just wanted to say Hi to everyone here. I'm not sure yet but we are testing for LGMD Type2B. I've had a diagnosis of Polymyositis since 1997 and saw a...
Welcome to the group, BillG. I appreciate how frustrating it must be awaiting a diagnosis--it certainly was for me. From what I've read and also heard from...
I just came across the following abstract, which reports a way of diagnosing dysferlin deficiency from a blood sample. The caution is that this test still...
I am so glad to know that you all are here. This has been such a long, emotionally and physically draining ordeal for me and my family. I was told 2 weeks ago...
Welcome to the group, Kendra. I can definitely relate to the thoughts and feelings you express. I imagine you are kind of overwhelmed right now trying to come...
Hi ! I've been diagnosed with type 2b for about a year now and I hope to learn as much as possible. Info is sparse on 2b and myoshi. I did learn quite a bit...
Welcome New Guy-- Brad Williams is usually online to greet newcomers to this list, but he has been incapacitated recently (I understand that he is on the mend...
Hi again folks and thanks for the greeting Sharon! Please forgive me for not pointing out that my name is Dave and I am the inquisitive type. To that end, I'd...
... I've also read that the number is very low at "end stages" . What's the scoop? CK (or CPK) is a muscle enzyme which leaks into the bloodstream when muscles...
Hi everyone, and thanks for filling in, Sharon! Well, I managed to fall down last week and break my leg...specifically, the upper portion of the tibia. I...
Thanks for the info Brad and I hope you have a speedy recovery. It must smart horribly to break a leg. I have another question. Has anyone here experienced any...
Hi, everyone, My name is Phalevi. I'm a french medical student interested in distal myopathies and of course dysferlinopathies. (so be lenient with the...
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Hi All, Just thought I would point out that Dr. Bob Brown has developed an antibody-based test for dysferlin deficiency that can be used on blood samples (no...
Sharon, thanks for posting Dr. Brown's contact info. I'm glad these things are getting easier today--it took me three biopsies, plus a 10 year wait for the...
Just thought I'd give an update on the leg. I got home a week ago and the leg seems to be healing nicely, according to the most recent x-rays the orthopedic...
Hello everyone, Hope you all are doing well. My doctor has sent a request to Dr. Vinter at UCLA to have my muscle biopsy tissue sent to Dr. Hoffman at the...
... I'm not sure whether the $150 is for shipping the biopsy, or the cost of testing once it gets to Children's. When I had my biopsy shipped for testing, the...
I came across the following trial of the steroid Deflazacort which is being investigated in Germany in patients with dysferlin deficiency. Deflazacort is also...
Hi everyone, May I ask all of you what you think of this clinical trial and the use of steroid? And If you are familiar with "deflazacort"= Calcort* ? I would...
Does anyone have the stats concerning the number of folks in the US with dysferlinopathy ? Just curious . I emailed the MDA and they actually referred me to...
... There isn't much in the way of reliable data (at least in the US) partly because there isn't any central place to collect it. Statistics collected on the...
Thanks for the reply Brad. It is very much appreciated. Maybe I'm naive , but I was very surprised the MDA didn't have any answers. Thanks again for your time....
Thanks for the reply Brad. It is very much appreciated. Maybe I'm naive , but I was very surprised the MDA didn't have any answers. Thanks again for your time....
Would it be appropriate to question the Neurological Society, or whatever it's called? Or, maybe better - to submit a questionaire for sending to their members...
What do I think about the clinical trial? There have been some studies testing Deflazacort in Duchenne MD and comparing it to Prednisone in particular. The...
