From: mmejia_28 <mmejia_28@...>
Subject: [dysferlin] Re: Testing for a Diagnosis
To: dysferlin@yahoogroups.com
Date: Sunday, August 3, 2008, 3:38 PM

Hi there Donna.
I'm sorry to hear that you are going through this as well. In my
case, it took doctors 3 years before they gave me a diagnosis. I have
had numerous tests done during that time period. A lot of time passed
by before doctors solved the mystery that i was because, i believe, i
hadnt shown any signs of weakness; i was younger and more active so
that wasnt a problem. I did have a muscle biopsy and that is what
gave me a difinitive diagnosis. i do notice one thing, my CK levels
were extremely high--in the 20,000's--not like yours which are fairly
normal. i havent done any blood work recently for the same reason
that it has become expensive and it almost seems unneccessary for me
to do since they have all been pretty consistent. Well, i hope this
helps.
-Miriam :)
--- In dysferlin@yahoogrou ps.com, "DeejLouise" <deejlouise@ ...> wrote:
>
> Hi all,
>
> I have had quite a few tests including an EMG which indicated that
> more muscles are affected than what I first thought. I only
thought
> my calf muscles were affected, as I have noticed a significant
> decrease in the size of my calf muscles and am unable to toe walk.
> An MRI indicated fatty infiltration in my lower back muscles. I
also
> have had some blood tests that measured my Creatine Kinase (CK)
level
> and dysferlin protien levels. My CK level was 147, which was
> slightly higher than the normal range, and I had "detectable"
levels
> of monocyte dysferlin. According to my doctor this does not
> necessarily rule out Miyoshi myopathy or LGMD 2B. The next step is
> for me to get a muscle biopsy, although my doctor states that a
> biopsy may provide no additional diagnostic information.
>
> So my question to this group is what tests did you have done other
> than genetic testing, that gave you a difinitive diagnosis. I'm
> wondering if I'm wasting my time with a muscle biopsy. I have been
> to two neurosurgeons and two neurologists. Only one had a
different
> opinion as to what I have, the other three agree that I have some
> sort of muscular disorder, specifically MM or LGMD 2B or some
> variation of this. I haven't considered the genetic test due to
the
> cost and insurance not covering any of it. I really would like to
> know what I'm dealing with and what my future possibly holds, but I
> feel that I'm running in circles trying to get an answer.
>
> Any input would be appreciated
>
> Thanks,
> Donna
>