Joshua M. Thayer
Edwards Angell Palmer & Dodge LLP
111 Huntington Avenue at Prudential Center
Boston, Massachusetts 02199-7613 
Direct: 617 239-0518; Fax: 617 227-4420
www.eapdlaw.com

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From: dysferlin@yahoogroups.com [mailto:dysferlin@yahoogroups.com] On Behalf Of DeejLouise
Sent: Sunday, August 03, 2008 4:05 PM
To: dysferlin@yahoogroups.com
Subject: [dysferlin] Testing for a Diagnosis

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

_______________________
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