Brad:
> I thought I would see what experiences others have had...
>
> When I first started to have symptoms (20 years ago) it seemed to be
> very difficult to find a neurologist who had any idea what to make of
> my symptoms. Also, my muscle biopsy seemed to confuse people: there
> were some inflammatory characteristics, which led people to think for
> several years that I might have polymyositis instead of a muscular
> dystrophy. After having read the recent literature, it turns out
> that inflammation is a typical characteristic of dysferlin
> deficiency, and that patients are often misdiagnosed as a result.
>
> Have things improved significantly in the past 20 years in terms of
> getting a correct diagnosis?

Hi Brad, and also to the rest of the group. For those who don't know me
(who I guess is everyone except Brad), I'm a student doing research
into dysferlin deficiency at a lab attached to an Australian hospital.
We've only been studying dysferlin deficiency for about a year, since
we got hold of the first reliable diagnostic tests (antibodies to the
dysferlin protein).

I sincerely hope that the accuracy of diagnosis has improved
dramatically in the last two decades. Although there is still a lot we
don't know about muscular dystrophies, our increasing understanding of
the genes involved in the various conditions has made laboratory
diagnosis a lot more reliable. Whereas five years ago our lab would not
have been able to diagnose LGMD-2B or Miyoshi myopathy with any real
confidence, we can now make a diagnosis right down to the level of the
actual causative genetic mutation.

I hope that these advances in technology have made things better for
patients of muscular dystrophy, and I'd be very interested in hearing
the experiences of members of this group with respect to diagnosis.


Daniel MacArthur.

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