--- In dysferlin@yahoogroups.com, "baw1064" <bwilliams163@...> wrote:
>
> Hi Marco,
>
> Good to hear from you! I'd also seen that paper. It's very
> interesting, but there are a few things that aren't clear.
>
> First, the patients weren't diagnosed with MM until they already had
> been treated with Dantrolene for many years. So there isn't really a
> good way to compare how they did with and without the drug. The only
> thing that the authors noticed was that the patients' CK levels were
> higher when they weren't on Dantrolene. But that might not
> necessarily be due to the drug itself.
>
> Of course, the important thing is muscle function, and in the paper
> the authors admit there isn't a good way to test this in these
> patients. The progression has been quite slow, but again, there
> isn't a way to be sure if it's due to the Dantrolene.
>
> Dantrolene is fairly safe and has been in use a long time. The major
> side effect is liver toxicity. One of the patients was taken off
> Dantrolene because of abnormal liver enzyme levels--but this may
> actually have been due to the muscle problem instead (the levels
> stayed high after stopping Dantrolene.
>
> At this point, one can't say that this is a treatment. It is worth
> exploring, and a controlled trial in dyferlin-deficient mice might be
> very informative. At the Jain Foundation, we are contacting the
> researchers to look into this further.
>
> Best wishes,
> Brad
>
> --- In dysferlin@yahoogroups.com, "marco.capolupi"
> <marco.capolupi@> wrote:
> >
> > Hi all, my name's Marco and I'm italian.
> > I was diagnosed with MM at age of 16. Now I'm 31 and I sometimes
> use a
> > wheelchair for outside while I still can walk in sure, safe, well
> > known places (home).
> > Dr Brad Williams, I was very happy to see you in the jain's
> conference
> > pictures!
> > I'm here to report an article appeared in Pubmed on Set 14.. and I
> > wish to have a little help from you in understanding the article,
> > since it's evident thah I know very little english..
> >
> > This is the article:
> >
> > A novel compound heterozygous dysferlin mutation in Miyoshi myopathy
> > siblings responding to dantrolene.
> > Hattori H, Nagata E, Oya Y, Takahashi T, Aoki M, Ito D, Suzuki N.
> >
> > Department of Neurology, Keio University School of Medicine, Tokyo,
> Japan.
> >
> > Miyoshi myopathy (MM) is an autosomal recessive distal muscular
> > dystrophy characterized by mutations of the dysferlin gene. Although
> > several pairs of homozygous/heterozygous mutations have been
> reported,
> > few effective treatments of MM are available. We had observed the
> > decreased serum creatine kinase (CK) before and after administration
> > of dantrolene in the elder brother and the increased serum CK before
> > and after discontinuance of the drug on suspicion of drug-induced
> > hepatopathy in the younger sister. We report a novel pair of
> > heterozygous mutations in the 3'-splicing site of exon 26 and the
> > translation site of exon 28 of the dysferlin gene in two siblings,
> and
> > effective treatment of their MM with dantrolene
> >
> >
> > The question is very simple: is dantrolene (used for HM) good or
> bad?
> >
> > Thanks,
> > Marco.
> >
>


Thanks Brad!
Are you working working working at Jain Foundation? As a job?
An other question for you.. are you a father Brad? I remember year
2000 or so that you were going to be a father.. how is it? I'm
thinking how to have a child.. I'm 31 now..
Thanks,
Marco.