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.
>