Hello all (esp. Lucinda),

Because of recent efforts to get a DNA analysis of my dyferlin
genes--not to had currently, unless anyone knows otherwise (if so,
please advise!)--I found out that the blood test for dysferlinopathy
diagnosis is commercially available effective April 1 (today) from a
U.S. lab called Athena Diagnostics. According to their Web site, the
cost is $450.00. I don't know what the approaches of insurance companies
might be toward coverage. I doubt I will seek the test, as my other
results seem rather conclusive. But for those who haven't had a muscle
biopsy/staining for dysferlin, or who have had ambiguous results to
date, it should be quite useful.

As far as Lucinda's query about the progression of the disease, my
experience has been very different. However, it's true that the LGMDs
are believed to vary a good deal from one individual to another. I can't
recall my CK precisely, but it was slightly elevated; the doctors felt
that it was probably quite high a while back, when I was a teenager, and
that it since leveled off some. Through regular exercise/physical
therapy, I have been able to build some extra strength, but not a
significant amount to a "normal" person. And I have pretty much never
had normal strength, so my case doesn't have a lot in common with
Lucinda's--for what it's worth.

Take care all,
Marian Ryan
Virginia, USA

-----Original Message-----
From: dysferlin@yahoogroups.com [mailto:dysferlin@yahoogroups.com]
Sent: Monday, March 31, 2003 11:40 AM
To: dysferlin@yahoogroups.com
Subject: [dysferlin] Digest Number 51


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------------------------------------------------------------------------

There are 3 messages in this issue.

Topics in this digest:

1. LGMD type 2B tests
From: "lucinda_hodges" <glhodges@...>
2. Re: LGMD type 2B tests
From: "baw1064" <BWilliams16@...>
3. Polymyositis or LGMD type 2B?
From: "lucinda_hodges" <glhodges@...>


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Message: 1
Date: Sat, 29 Mar 2003 06:27:12 -0000
From: "lucinda_hodges" <glhodges@...>
Subject: LGMD type 2B tests

I was wondering if anyone in this group knows any information about
current diagnostic tests available for LGMD type 2B. I've read that
there are a number of specialist laboratories around the world that
will do this testing either on the muscle biopsy slide or by blood
sample but I need to know if it is possible for any lab to do these
tests? My specialist has asked the lab techs here in New Zealand to
do these tests and they've supposidly been at it for 11 months. How
difficult are these tests to perform and will our hospital lab techs
have the expertise to interpret the results?
Thanks for your help!
Lucinda





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Message: 2
Date: Sun, 30 Mar 2003 19:24:13 -0000
From: "baw1064" <BWilliams16@...>
Subject: Re: LGMD type 2B tests

Hi Lucinda,

The diagnostic test currently done involves testing for the presence
of the dysferlin protein, using an antibody which recognizes
dysferlin. Currently this is done using a muscle biopsy, although a
test is currently being developed do detect dysferlin in a certain
type of white blood cells, which would be convenient for a lot of
people because it wouldn't necessitate the trouble of a muscle
biopsy...
As I understand it, performing the test is not all that
technically difficult; the antibodies which have been developed for
dysferlin detection are quite sensitive and are commercially
available. There is a difficulty in that patients who have a
mutation in one gene sometimes show abnormalities in other muscle
proteins as a secondary effect. For dysferlin, patients who have
genetically confirmed muscular dystrophy of other types have been
shown to sometimes exhibit abnormal expression or localization (not
in the proper place within the cell) of dysferlin. So the protein
test is very useful, but probably shouldn't be the sole criterion
for a diagnosis--a patient's age, history, symptoms, and other tests
such as CK, EMG, etc. should be taken into account.
I don't know specifically of laboratories in New Zealand who
perform the test (perhaps the MDA of NZ would be able to provide
this information?) I do know that the Children's Hospital in
Westmead, Sydney does this sort of testing and is currently
conducting research on dysferlin deficiency.

Hope this helps..best of luck to you!
Brad




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Message: 3
Date: Mon, 31 Mar 2003 02:20:59 -0000
From: "lucinda_hodges" <glhodges@...>
Subject: Polymyositis or LGMD type 2B?

Thanks Brad for the very helpful information on diagnostic testing.
I've been wondering if anyone in this group has had a similar
experience of rate of progression of muscle weakness or similar on-
going CK values to my disease course?
Up until three years ago I was normal (fit enough, a scuba-diver and
a very happy person who enjoyed life). We had spent the summer
holiday travelling part of the coast of Australia and life was truely
brill - I was 33. I started back to school for the new year (I'm a
chemistry teacher) and I began to notice that I had difficulty
getting back onto the dive boat when I was fully kitted with my
weight belt and tank (I used to help out with the school dive club).
I also couldn't lift a TV we had at school that I hadn't had any
problems with lifting the term before. Over the next 10 weeks I lost
16 kg in weight. I couldn't run, it was really difficult to get up
out of a chair, walk up stairs, if I lay down I couldn't sit forward
at all, turning over in bed was difficult, it got to the stage that I
couldn't drive the car because I couldn't turn my neck to check what
was around me and holding my legs in the positions needed to operate
the peddles was impossible. I was sent to see a specialist
neurologist who did a muscle biopsy. The muscle biopsy showed
inflammation. My CK was 15,500. I was put on 50mg of Prednisone
daily. I was sent for a second opinion to a specialist Rhematologist
who agreed with the diagnosis. My CK was 10,000 so she also started
me on immune-suppressants (the dose was increased to 20mg once
weekly). My CK dropped and flucated around 5,000 for the next year.
As soon as I was put on the Prednisone I had problems - I kept
crying, alsorts were happening in my head. My specialist said it was
an unfortunate side effect of Prednisone and that he would get the
dose down just as soon as he could. I started having palpatations
(they called it) where my heart kept beating really fast for no
reason when I wasn't doing anything - maybe it was the weight loss or
stress or something. I'm not sure why but the Rheumatologist thought
my heart muscle might have been involved and so sent me for an EMG.
I was leaving the hospital after the appointment and collapsed in the
hospital. They took me to ED - I had really bad pins and needles in
my hands and feet. The blood tests they did showed that I had raised
levels of Troponin I (a substance that is released into the blood
after a heart attack. It's also suppose to be made by regenerating
muscle tissue)- That week I had a heart biopsy which was found to be
normal, I'd just fainted! My muscle strength over the next year did
improve slowly and I returned to near normal strength. My mental
condition however deteriorated and things got so bad that they had to
drop me off the Prednisone fast - I'd been on 30mg of Prednisone for
all that time. The mental pain I suffered was unbearable. I've spent
3 years with clinical depression and was put me on relevant
medication for it. About a year ago I decided I'd had enough and
stopped taking all my drugs. Without the immune-suppressants my
specialist expected that the polymyositis would flare but it didn't.
My CK stayed between 3,000 and 5,000 and I didn't get really weak
again. My specialist thinks now that it might be LGMD type 2B
because it is the same muscles that are affected (muscles closest to
the trunk) and it's not following the normal pattern for
polymyositis. I thought that LGMD was a progressive disease and that
you wouldn't regain strength once it was lost. It doesn't really
seem to be following a typical LGMD pattern either or have people had
similar experiences of being weak and then getting stronger again?
What typical CK values do you all have?
Any information re your experiences would be really appreciated.
Lucinda




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