Hi friends

Do you have any update on this question about how to detect the
dysferlin in the blood? I have a nephew that had a problem of MD and
we are trying to identify which one is. Also, do you know if exist in
the market any product or vitamin suplement that contain the
dysferlin and if it is something that he can take and it could work
in that way? Or is this a lot more complicated than this?

Also, Im trying to find what are the best place to check him in USA,
he is living in Peru right now and is only 3 years old, but he have
it since 2 years, which is odd really.

Thank you,

Raul

--- In dysferlin@yahoogroups.com, "baw1064" <BWilliams16@c...> wrote:
> 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