This message if for those members that are suffereing from dysferlin
deficiency and have been diagnosed with Miyoshi or LGMD2B

I run a family foundation that is focused on dysferlin deficiency. We
fund research in several labs currently. The foundation is a year old
and we just established a website for it.

As far as we know, ours is the only foundation that focuses only on
dysferlin deficiency.

Please go to our website for additional information.

Our website address is
www.jain-foundation.org

Thanks

Hi, sorry for the delay in replying, I have limited internet access.

It's early days for me with the disorder, I'm 28 now and, although
looking back, I can identify the signs starting when I was about 19, I
have only just had a diagnosis. hence I'm still quite mobile at the
moment. I try and walk as much as possible and just generally keep
active, not give in cause its a bit hard work. I've been advised not to
push myself too hard, so I don't keep going till it hurts - just gentle
but regular exercise. I do find my muscles ache the next day if I've
done too much, but its not too bad and I think it's fairly natural that
they would. From what I've been told, I don't think I'm doing them any
harm. Swimming is particularly good (none weight baring). Also, people
have said that it's very important to do stretching exercises (in all
muscular dystrophies). I try to touch my toes whenever I remember!
Yoga's good too, there's a lot you can do sitting on the floor or
leaning against a wall. My brother's phisio has told him that posture is
very important, I'm due to see a phisio soon so I'll ask more advice
then. I'll post any interesting news. Apart from all that I try to work
directly on the muscles that are not effected (stomach crunches daily -
again just gentle as pos). I've been told that the unaffected muscles
can help compensate for the affected ones so it seems a good idea to
keep in as good a shape as possible. I also had my heart thoroughly
checked out and was assured that it was fine and quite capable of being
as fit and healthy as anyone else's if I could find ways of exercising -
I was very relieved at this and quite inspired (not inspired enough to
give up smoking unfortunately).

I really don't do as much as I would like, and I'm definitely no expert.
It makes intuitive sense to me that if things are hard work cause your
muscles aren't what they could be, life will be made easier if the rest
of you is as fit as possible to compensate.

As for noticing improvements, no. I don't want to foster any false hope
in anyone. I have always been quite an active person (and quite skinny)
and my progression does seem to be being quite slow. Whether there is a
connection I really don't know. However, although there have been many
times when I could really identify with the chap the other day who said
he felt like he had the body of an old person, I generally feel pretty
fit, well and energetic, and I'm working on quite a nice flat stomach
(just with un-cooperative limbs). Having said that, for all the ladies
out there, it's definitely worse (like everything) at certain times of
the month...).

Well, hope that wasn't too long an email, just thoughts really. Best
wishes all,

Bex.


John B wrote:
>
>
> What do you do to stay healthy?  Have you noticed any improvements?
>
> */Rebecca Read <rebeccajread@...>/* wrote:
>
>     I think I might be quite lucky as my metabolism seem to be naturally
>     quite fast and I've always been pretty skinny, I'm hoping it will help
>     with my mobility - less weight for my muscles to support... Its early
>     days yet though so we shall see.
>
>     There had been no history of dysferlinopathy in my family either until
>     my brother and I both developed it. I really don't understand the
>     heritability of the thing. If it is autosomnal recessive sporadic
>     (think
>     that's what I read) does that mean that both parents must be carriers
>     and even then there is no guarantee that you'll get it (making my
>     brother and I a pretty rare case)?
>
>     My family hasn't had any genetic tests yet. As far as I know though,
>     carriers won't necessarily have raised CPK levels, I believe that these
>     raised levels are a symptom of the disorder itself... someone please
>     correct me if I'm wrong.
>
>     My brother is almost 5 years older than me with a similar age of onset.
>     He lives just up the road. Its certainly pretty strange being able to
>     see, in someone so close to you, what your future may well hold. In
>     some
>     ways it's useful and in others pretty scary. It has made me determined
>     to look after myself, eat well, keep as fit as possible etc, and make
>     the most of whatever state of health I have while I have it. There's
>     certainly no hiding away from it when your seeing it in someone else as
>     well as yourself. On the positive side, it has given us something in
>     common and I think it has bought us a little closer. Before my
>     diagnosis
>     it was horrible watching him go through it alone, at least now I can
>     understand how he feels a little better.
>
>     xron922 wrote:
>      >
>      >
>      > yes, i think we all need to do less mouth stuffing! hahaha. i really
>      > enjoy eating too but my metabolism is slower and without as much
>      > muscle mass as when i was younger, my body just doesn't need all
>     those
>      > calories anymore! I know that the disease is supposed to be an
>      > inherited recessive trait but nobody in my family has any similar
>      > symptoms and my immediate family all have normal CPK levels so i
>     think
>      > i may be a sporadic case. do you are anybody else here have any other
>      > family members with disease or carrier traits?
>      >
>      > --- In dysferlin@yahoogroups.com
>     <mailto:dysferlin%40yahoogroups.com>
>     <mailto:dysferlin%40yahoogroups.com>,
>      > Philip and/or Christina
>      > <soonerpgh@...> wrote:
>      > >
>      > > I just found out about mine, as you know, well, at least
>      > specifically what kind of mutant I am.
>      > >
>      > > I am only 34, but I am about 10 years ahead of you as far as
>      > progression goes. I remember the days you describe, where the stairs
>      > were tough. Now, it's to the point where a step, curb, whatever, may
>      > as well be Mount Everest. I hated the idea of a wheelchair and fought
>      > it like it would be the death of me. Actually, it has been the best
>      > thing I have done in a long time. I can now go places without having
>      > to lean on my wife going up/down hills, and all of that. While there
>      > are some cons, I think the pros out-weigh them by a ton, at least in
>      > my case.
>      > >
>      > > The worst part is the no exercise and the inevitable weight gain.
>      > However, I was gaining the weight before I go tthe chair, so maybe
>      > I'm just making excuses. I just need to slow down on the
>      > mouth-stuffing. That would help me as much as anything.
>      > >
>      > > xron922 <ronchao1@...> wrote:
>      > > Hey Philip!
>      > >
>      > > Welcome. It's always great to meet other people with my disease on
>      > > here. I have Miyoshi like you and Brad which was diagnosed at
>     23. I'm
>      > > 36 now and still walk without a wheelchair but can't run and have
>      > > trouble getting up stairs. I'm actually really scared about the
>      > > prospect of having to use a wheelchair someday but i guess it's not
>      > > that bad really. I think one study i read said that 1/3 of the
>      > > patients eventually required wheelchairs and there was like 1
>     patient
>      > > in a case report i read that was bedridden. I guess there's alot of
>      > > individual variation with this disease, but the longer you have
>     it the
>      > > more it progresses. It's certainly frustrating not being as
>     active and
>      > > athletic as i was when i was younger, but it's always great to talk
>      > > with others for support. Hope you all have a great summer!
>      > >
>      > > Ron
>      > >
>      > > --- In dysferlin@yahoogroups.com
>     <mailto:dysferlin%40yahoogroups.com>
>      > <mailto:dysferlin%40yahoogroups.com>, "baw1064" <bwilliams163@>
>     wrote:
>      > > >
>      > > > Glad to have you join the group. I have Miyoshi also, and had
>      > > > symptoms beginning at 18. I'm 43 now, and have used a wheelchari
>      > > > for the last 4 years. Like you, I found that not constantly
>     having
>      > > > to worry about falling was a big incentive to be willing to leave
>      > > > the house.
>      > > >
>      > > > I'm sure there are several other members who will also be
>     happy to
>      > > > share their stories. Please ask any questions you may have.
>      > > >
>      > > > Brad
>      > > >
>      > > >
>      > > > --- In dysferlin@yahoogroups.com
>     <mailto:dysferlin%40yahoogroups.com>
>      > <mailto:dysferlin%40yahoogroups.com>, "biscuitsmom30" <soonerpgh@>
>      > > > wrote:
>      > > > >
>      > > > > I was just diagnosed yesterday with Miyoshi Myopathy. I was
>      > > > > originally diagnosed with LGMD when I was 18 (started having
>      > > > symptoms
>      > > > > at 15). They were able to diagnose me with Miyoshi after a
>     blood
>      > > > > test. I am 34 now and I have been using an electric wheelchair
>      > > > for
>      > > > > the past year. After a series of terrible falls, I decided
>     that a
>      > > > > wheelchair didn't sound so bad after all. It turned out to be a
>      > > > good
>      > > > > decision for me. I can now go places with my family and enjoy
>      > > > their
>      > > > > company instead of huffing and puffing and worrying about
>     falling
>      > > > the
>      > > > > whole time. My legs are basically gone at this point and my
>     arms
>      > > > are
>      > > > > weak, especially my biceps. I am married with 4 kids. Two boys
>      > > > and
>      > > > > two girls. I'm new to this disorder so any information is
>      > > > appreciated.
>      > > > > Thanks,
>      > > > > Philip
>      > > > >
>      > > >
>      > >
>      >
>      >
>
>
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I think I might be quite lucky as my metabolism seem to be naturally
quite fast and I've always been pretty skinny, I'm hoping it will help
with my mobility - less weight for my muscles to support... Its early
days yet though so we shall see.

There had been no history of dysferlinopathy in my family either until
my brother and I both developed it. I really don't understand the
heritability of the thing. If it is autosomnal recessive sporadic (think
that's what I read) does that mean that both parents must be carriers
and even then there is no guarantee that you'll get it (making my
brother and I a pretty rare case)?

My family hasn't had any genetic tests yet. As far as I know though,
carriers won't necessarily have raised CPK levels, I believe that these
raised levels are a symptom of the disorder itself... someone please
correct me if I'm wrong.

My brother is almost 5 years older than me with a similar age of onset.
He lives just up the road. Its certainly pretty strange being able to
see, in someone so close to you, what your future may well hold. In some
ways it's useful and in others pretty scary. It has made me determined
to look after myself, eat well, keep as fit as possible etc, and make
the most of whatever state of health I have while I have it. There's
certainly no hiding away from it when your seeing it in someone else as
well as yourself. On the positive side, it has given us something in
common and I think it has bought us a little closer. Before my diagnosis
it was horrible watching him go through it alone, at least now I can
understand how he feels a little better.

xron922 wrote:
>
>
> yes, i think we all need to do less mouth stuffing! hahaha. i really
> enjoy eating too but my metabolism is slower and without as much
> muscle mass as when i was younger, my body just doesn't need all those
> calories anymore! I know that the disease is supposed to be an
> inherited recessive trait but nobody in my family has any similar
> symptoms and my immediate family all have normal CPK levels so i think
> i may be a sporadic case. do you are anybody else here have any other
> family members with disease or carrier traits?
>
> --- In dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com>,
> Philip and/or Christina
> <soonerpgh@...> wrote:
> >
> > I just found out about mine, as you know, well, at least
> specifically what kind of mutant I am.
> >
> > I am only 34, but I am about 10 years ahead of you as far as
> progression goes. I remember the days you describe, where the stairs
> were tough. Now, it's to the point where a step, curb, whatever, may
> as well be Mount Everest. I hated the idea of a wheelchair and fought
> it like it would be the death of me. Actually, it has been the best
> thing I have done in a long time. I can now go places without having
> to lean on my wife going up/down hills, and all of that. While there
> are some cons, I think the pros out-weigh them by a ton, at least in
> my case.
> >
> > The worst part is the no exercise and the inevitable weight gain.
> However, I was gaining the weight before I go tthe chair, so maybe
> I'm just making excuses. I just need to slow down on the
> mouth-stuffing. That would help me as much as anything.
> >
> > xron922 <ronchao1@...> wrote:
> > Hey Philip!
> >
> > Welcome. It's always great to meet other people with my disease on
> > here. I have Miyoshi like you and Brad which was diagnosed at 23. I'm
> > 36 now and still walk without a wheelchair but can't run and have
> > trouble getting up stairs. I'm actually really scared about the
> > prospect of having to use a wheelchair someday but i guess it's not
> > that bad really. I think one study i read said that 1/3 of the
> > patients eventually required wheelchairs and there was like 1 patient
> > in a case report i read that was bedridden. I guess there's alot of
> > individual variation with this disease, but the longer you have it the
> > more it progresses. It's certainly frustrating not being as active and
> > athletic as i was when i was younger, but it's always great to talk
> > with others for support. Hope you all have a great summer!
> >
> > Ron
> >
> > --- In dysferlin@yahoogroups.com
> <mailto:dysferlin%40yahoogroups.com>, "baw1064" <bwilliams163@> wrote:
> > >
> > > Glad to have you join the group. I have Miyoshi also, and had
> > > symptoms beginning at 18. I'm 43 now, and have used a wheelchari
> > > for the last 4 years. Like you, I found that not constantly having
> > > to worry about falling was a big incentive to be willing to leave
> > > the house.
> > >
> > > I'm sure there are several other members who will also be happy to
> > > share their stories. Please ask any questions you may have.
> > >
> > > Brad
> > >
> > >
> > > --- In dysferlin@yahoogroups.com
> <mailto:dysferlin%40yahoogroups.com>, "biscuitsmom30" <soonerpgh@>
> > > wrote:
> > > >
> > > > I was just diagnosed yesterday with Miyoshi Myopathy. I was
> > > > originally diagnosed with LGMD when I was 18 (started having
> > > symptoms
> > > > at 15). They were able to diagnose me with Miyoshi after a blood
> > > > test. I am 34 now and I have been using an electric wheelchair
> > > for
> > > > the past year. After a series of terrible falls, I decided that a
> > > > wheelchair didn't sound so bad after all. It turned out to be a
> > > good
> > > > decision for me. I can now go places with my family and enjoy
> > > their
> > > > company instead of huffing and puffing and worrying about falling
> > > the
> > > > whole time. My legs are basically gone at this point and my arms
> > > are
> > > > weak, especially my biceps. I am married with 4 kids. Two boys
> > > and
> > > > two girls. I'm new to this disorder so any information is
> > > appreciated.
> > > > Thanks,
> > > > Philip
> > > >
> > >
> >
>
>

Hi everybody,

I have found this group while I was searching desperately for a
cure/information for the LGMD 2B through internet. I would be glad if
you do have any information of any potential treatment or a cure for
this disease.

best wishes.

Su

Thanks ron, that's clarified things for me to some extent, I didn't
realise the genetics of the disorder were so hazy still.

Yes, there are definite pluses for me about not being the only one in
the family with dysferlinopathy, but then of course family relationships
are rarely straightforward, it's not always easy to be as supportive as
you would like to be I think.



xron922 wrote:
>
>
> Actually, recessive and sporadic traits are different. The disease is
> normally described as an autosomal recessive trait which makes the
> disease so rare, since both mother and father would have to be
> carriers. From a purely genetic mathematical statistical standpoint,
> the chance of 2 siblings getting the disease would be extremely
> remote. But siblings and close relatives with the disease seem to be
> described more often then what the statistical chance would indicate,
> so either other factors are involved or the genetics of the disease
> may not be quite what is classically described.
>
> Although there's not alot of research to date on the carrier state, my
> neuromuscular specialist at least thought about the possibility of a
> carrier having mildly elevated CPK levels without showing physical
> signs of the disease. That's why he had my immediate family members
> tested for CPK. It's also possible that carriers might have mild signs
> of disease without full blown muscle wasting, etc. Since no one in my
> known family tree has any evidence of this disease or carrier state,
> my doctor thought that my disease might be sporadic or more of a
> random genetic mutation as opposed to a recessive inherited gene from
> both of my parents.
>
> I've never personally met anyone else with this disease yet, so it
> must be good to have someone close to you who can relate and be there
> to support you.
>
> Ron
>
> --- In dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com>,
> Rebecca Read <rebeccajread@...> wrote:
>  >
>  > I think I might be quite lucky as my metabolism seem to be naturally
>  > quite fast and I've always been pretty skinny, I'm hoping it will help
>  > with my mobility - less weight for my muscles to support... Its early
>  > days yet though so we shall see.
>  >
>  > There had been no history of dysferlinopathy in my family either until
>  > my brother and I both developed it. I really don't understand the
>  > heritability of the thing. If it is autosomnal recessive sporadic
> (think
>  > that's what I read) does that mean that both parents must be carriers
>  > and even then there is no guarantee that you'll get it (making my
>  > brother and I a pretty rare case)?
>  >
>  > My family hasn't had any genetic tests yet. As far as I know though,
>  > carriers won't necessarily have raised CPK levels, I believe that these
>  > raised levels are a symptom of the disorder itself... someone please
>  > correct me if I'm wrong.
>  >
>  > My brother is almost 5 years older than me with a similar age of onset.
>  > He lives just up the road. Its certainly pretty strange being able to
>  > see, in someone so close to you, what your future may well hold. In
> some
>  > ways it's useful and in others pretty scary. It has made me determined
>  > to look after myself, eat well, keep as fit as possible etc, and make
>  > the most of whatever state of health I have while I have it. There's
>  > certainly no hiding away from it when your seeing it in someone else as
>  > well as yourself. On the positive side, it has given us something in
>  > common and I think it has bought us a little closer. Before my
> diagnosis
>  > it was horrible watching him go through it alone, at least now I can
>  > understand how he feels a little better.
>  >
>  >
>  > xron922 wrote:
>  > >
>  > >
>  > > yes, i think we all need to do less mouth stuffing! hahaha. i really
>  > > enjoy eating too but my metabolism is slower and without as much
>  > > muscle mass as when i was younger, my body just doesn't need all those
>  > > calories anymore! I know that the disease is supposed to be an
>  > > inherited recessive trait but nobody in my family has any similar
>  > > symptoms and my immediate family all have normal CPK levels so i think
>  > > i may be a sporadic case. do you are anybody else here have any other
>  > > family members with disease or carrier traits?
>  > >
>  > > --- In dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com>
> <mailto:dysferlin%40yahoogroups.com>,
>  > > Philip and/or Christina
>  > > <soonerpgh@> wrote:
>  > > >
>  > > > I just found out about mine, as you know, well, at least
>  > > specifically what kind of mutant I am.
>  > > >
>  > > > I am only 34, but I am about 10 years ahead of you as far as
>  > > progression goes. I remember the days you describe, where the stairs
>  > > were tough. Now, it's to the point where a step, curb, whatever, may
>  > > as well be Mount Everest. I hated the idea of a wheelchair and fought
>  > > it like it would be the death of me. Actually, it has been the best
>  > > thing I have done in a long time. I can now go places without having
>  > > to lean on my wife going up/down hills, and all of that. While there
>  > > are some cons, I think the pros out-weigh them by a ton, at least in
>  > > my case.
>  > > >
>  > > > The worst part is the no exercise and the inevitable weight gain.
>  > > However, I was gaining the weight before I go tthe chair, so maybe
>  > > I'm just making excuses. I just need to slow down on the
>  > > mouth-stuffing. That would help me as much as anything.
>  > > >
>  > > > xron922 <ronchao1@> wrote:
>  > > > Hey Philip!
>  > > >
>  > > > Welcome. It's always great to meet other people with my disease on
>  > > > here. I have Miyoshi like you and Brad which was diagnosed at
> 23. I'm
>  > > > 36 now and still walk without a wheelchair but can't run and have
>  > > > trouble getting up stairs. I'm actually really scared about the
>  > > > prospect of having to use a wheelchair someday but i guess it's not
>  > > > that bad really. I think one study i read said that 1/3 of the
>  > > > patients eventually required wheelchairs and there was like 1
> patient
>  > > > in a case report i read that was bedridden. I guess there's alot of
>  > > > individual variation with this disease, but the longer you have
> it the
>  > > > more it progresses. It's certainly frustrating not being as
> active and
>  > > > athletic as i was when i was younger, but it's always great to talk
>  > > > with others for support. Hope you all have a great summer!
>  > > >
>  > > > Ron
>  > > >
>  > > > --- In dysferlin@yahoogroups.com
> <mailto:dysferlin%40yahoogroups.com>
>  > > <mailto:dysferlin%40yahoogroups.com>, "baw1064" <bwilliams163@> wrote:
>  > > > >
>  > > > > Glad to have you join the group. I have Miyoshi also, and had
>  > > > > symptoms beginning at 18. I'm 43 now, and have used a wheelchari
>  > > > > for the last 4 years. Like you, I found that not constantly
> having
>  > > > > to worry about falling was a big incentive to be willing to leave
>  > > > > the house.
>  > > > >
>  > > > > I'm sure there are several other members who will also be
> happy to
>  > > > > share their stories. Please ask any questions you may have.
>  > > > >
>  > > > > Brad
>  > > > >
>  > > > >
>  > > > > --- In dysferlin@yahoogroups.com
> <mailto:dysferlin%40yahoogroups.com>
>  > > <mailto:dysferlin%40yahoogroups.com>, "biscuitsmom30" <soonerpgh@>
>  > > > > wrote:
>  > > > > >
>  > > > > > I was just diagnosed yesterday with Miyoshi Myopathy. I was
>  > > > > > originally diagnosed with LGMD when I was 18 (started having
>  > > > > symptoms
>  > > > > > at 15). They were able to diagnose me with Miyoshi after a
> blood
>  > > > > > test. I am 34 now and I have been using an electric wheelchair
>  > > > > for
>  > > > > > the past year. After a series of terrible falls, I decided
> that a
>  > > > > > wheelchair didn't sound so bad after all. It turned out to be a
>  > > > > good
>  > > > > > decision for me. I can now go places with my family and enjoy
>  > > > > their
>  > > > > > company instead of huffing and puffing and worrying about
> falling
>  > > > > the
>  > > > > > whole time. My legs are basically gone at this point and my
> arms
>  > > > > are
>  > > > > > weak, especially my biceps. I am married with 4 kids. Two boys
>  > > > > and
>  > > > > > two girls. I'm new to this disorder so any information is
>  > > > > appreciated.
>  > > > > > Thanks,
>  > > > > > Philip
>  > > > > >
>  > > > >
>  > > >
>  > >
>  > >
>  >
>
>

I think I might be quite lucky as my metabolism seem to be naturally
quite fast and I've always been pretty skinny, I'm hoping it will help
with my mobility - less weight for my muscles to support... Its early
days yet though so we shall see.

There had been no history of dysferlinopathy in my family either until
my brother and I both developed it. I really don't understand the
heritability of the thing. If it is autosomnal recessive sporadic (think
that's what I read) does that mean that both parents must be carriers
and even then there is no guarantee that you'll get it (making my
brother and I a pretty rare case)?

My family hasn't had any genetic tests yet. As far as I know though,
carriers won't necessarily have raised CPK levels, I believe that these
raised levels are a symptom of the disorder itself... someone please
correct me if I'm wrong.

My brother is almost 5 years older than me with a similar age of onset.
He lives just up the road. Its certainly pretty strange being able to
see, in someone so close to you, what your future may well hold. In some
ways it's useful and in others pretty scary. It has made me determined
to look after myself, eat well, keep as fit as possible etc, and make
the most of whatever state of health I have while I have it. There's
certainly no hiding away from it when your seeing it in someone else as
well as yourself. On the positive side, it has given us something in
common and I think it has bought us a little closer. Before my diagnosis
it was horrible watching him go through it alone, at least now I can
understand how he feels a little better.


xron922 wrote:
>
>
> yes, i think we all need to do less mouth stuffing! hahaha. i really
> enjoy eating too but my metabolism is slower and without as much
> muscle mass as when i was younger, my body just doesn't need all those
> calories anymore! I know that the disease is supposed to be an
> inherited recessive trait but nobody in my family has any similar
> symptoms and my immediate family all have normal CPK levels so i think
> i may be a sporadic case. do you are anybody else here have any other
> family members with disease or carrier traits?
>
> --- In dysferlin@yahoogroups.com <mailto:dysferlin%40yahoogroups.com>,
> Philip and/or Christina
> <soonerpgh@...> wrote:
>  >
>  > I just found out about mine, as you know, well, at least
> specifically what kind of mutant I am.
>  >
>  > I am only 34, but I am about 10 years ahead of you as far as
> progression goes. I remember the days you describe, where the stairs
> were tough. Now, it's to the point where a step, curb, whatever, may
> as well be Mount Everest. I hated the idea of a wheelchair and fought
> it like it would be the death of me. Actually, it has been the best
> thing I have done in a long time. I can now go places without having
> to lean on my wife going up/down hills, and all of that. While there
> are some cons, I think the pros out-weigh them by a ton, at least in
> my case.
>  >
>  > The worst part is the no exercise and the inevitable weight gain.
> However, I was gaining the weight before I go tthe chair, so maybe
> I'm just making excuses. I just need to slow down on the
> mouth-stuffing. That would help me as much as anything.
>  >
>  > xron922 <ronchao1@...> wrote:
>  > Hey Philip!
>  >
>  > Welcome. It's always great to meet other people with my disease on
>  > here. I have Miyoshi like you and Brad which was diagnosed at 23. I'm
>  > 36 now and still walk without a wheelchair but can't run and have
>  > trouble getting up stairs. I'm actually really scared about the
>  > prospect of having to use a wheelchair someday but i guess it's not
>  > that bad really. I think one study i read said that 1/3 of the
>  > patients eventually required wheelchairs and there was like 1 patient
>  > in a case report i read that was bedridden. I guess there's alot of
>  > individual variation with this disease, but the longer you have it the
>  > more it progresses. It's certainly frustrating not being as active and
>  > athletic as i was when i was younger, but it's always great to talk
>  > with others for support. Hope you all have a great summer!
>  >
>  > Ron
>  >
>  > --- In dysferlin@yahoogroups.com
> <mailto:dysferlin%40yahoogroups.com>, "baw1064" <bwilliams163@> wrote:
>  > >
>  > > Glad to have you join the group. I have Miyoshi also, and had
>  > > symptoms beginning at 18. I'm 43 now, and have used a wheelchari
>  > > for the last 4 years. Like you, I found that not constantly having
>  > > to worry about falling was a big incentive to be willing to leave
>  > > the house.
>  > >
>  > > I'm sure there are several other members who will also be happy to
>  > > share their stories. Please ask any questions you may have.
>  > >
>  > > Brad
>  > >
>  > >
>  > > --- In dysferlin@yahoogroups.com
> <mailto:dysferlin%40yahoogroups.com>, "biscuitsmom30" <soonerpgh@>
>  > > wrote:
>  > > >
>  > > > I was just diagnosed yesterday with Miyoshi Myopathy. I was
>  > > > originally diagnosed with LGMD when I was 18 (started having
>  > > symptoms
>  > > > at 15). They were able to diagnose me with Miyoshi after a blood
>  > > > test. I am 34 now and I have been using an electric wheelchair
>  > > for
>  > > > the past year. After a series of terrible falls, I decided that a
>  > > > wheelchair didn't sound so bad after all. It turned out to be a
>  > > good
>  > > > decision for me. I can now go places with my family and enjoy
>  > > their
>  > > > company instead of huffing and puffing and worrying about falling
>  > > the
>  > > > whole time. My legs are basically gone at this point and my arms
>  > > are
>  > > > weak, especially my biceps. I am married with 4 kids. Two boys
>  > > and
>  > > > two girls. I'm new to this disorder so any information is
>  > > appreciated.
>  > > > Thanks,
>  > > > Philip
>  > > >
>  > >
>  >
>
>

Has anyone here had any joy with physiotherapy at all? My brother (also
with Dysferlinopathy) has found it very helpful, and I am just about to
embark on some. Will be given by special neurological disorder
specialist physios from what I can gather. My brother's physio even felt
confident enough to say that he was fairly sure that my brother has the
myoshi version of the disorder based purely on physical examination. I
wondered what others experiences have been...


biscuitsmom30 wrote:
>
>
> I used mine for years. They were great until I fell, then the toes
> took a serious beating, along with the knees.
>
> Trust me, in my case, the chair is MUCH better. ;)
>
>

Hello, Donna,

My suggestion would be to ask for a blood test to check for the most
recent types of genetic mutations, or however you may want to put it.
I was diagnosed using blood tests (originally misdiagnosed with a
biopsy) so I would suggest that.

However, if your MD clinic isn't up to speed on things, you may have
to do some of the homework yourself and don't be surprised if the
doctor isn't too impressed with your self-diagnosis.  After all, they
did go to school and are much more capable than us lowly MD patients
(I can't find the sarcasm button on the keyboard).  :)

Anyway, that's my two cents.

Phil

My name is Donna.  I'm a 37 year old mother of 2 teens and a
grandmother to one beautiful 2 year old little princess.  I was
diagnosed with LGMD at the age of 17 but never even knew until
recently that there were different types.  What is the best way to go
about finding out which I have?  I live in southeast Missouri and go
to the nearest MD clinic, but apparently they don't know too much
either or I'd have heard about this long before now.  Any info you can
give me will be great....

Thanks and glad to meet you all!

I used mine for years.  They were great until I fell, then the toes
took a serious beating, along with the knees.

Trust me, in my case, the chair is MUCH better.  ;)

Wow, that does seem fast.  I hope you can get someone to listen to you
and figure out what is making it progress so quickly.

It seems that one of the unfortunate attributes of this disorder is
that it reacts differently in different people.

Sorry about posting and disappearing like I did.  Our computer took a
crash and I have had to rebuild it.  Anyway, enough about my woes.

I will try to be a little more attentive to the board than I have been
the last few days.

If any of you have any questions, or whatever, I'm back.  ;)

yes, i think we all need to do less mouth stuffing! hahaha. i really
enjoy eating too but my metabolism is slower and without as much
muscle mass as when i was younger, my body just doesn't need all those
calories anymore! I know that the disease is supposed to be an
inherited recessive trait but nobody in my family has any similar
symptoms and my immediate family all have normal CPK levels so i think
i may be a sporadic case. do you are anybody else here have any other
family members with disease or carrier traits?

--- In dysferlin@yahoogroups.com, Philip and/or Christina
<soonerpgh@...> wrote:
>
> I just found out about mine, as you know, well, at least
specifically what kind of mutant I am.
>
> I am only 34, but I am about 10 years ahead of you as far as
progression goes. I remember the days you describe, where the stairs
were tough. Now, it's to the point where a step, curb, whatever, may
as well be Mount Everest. I hated the idea of a wheelchair and fought
it like it would be the death of me. Actually, it has been the best
thing I have done in a long time. I can now go places without having
to lean on my wife going up/down hills, and all of that. While there
are some cons, I think the pros out-weigh them by a ton, at least in
my case.
>
> The worst part is the no exercise and the inevitable weight gain.
However, I was gaining the weight before I go tthe chair, so maybe
I'm just making excuses. I just need to slow down on the
mouth-stuffing. That would help me as much as anything.
>
> xron922 <ronchao1@...> wrote:
> Hey Philip!
>
> Welcome. It's always great to meet other people with my disease on
> here. I have Miyoshi like you and Brad which was diagnosed at 23. I'm
> 36 now and still walk without a wheelchair but can't run and have
> trouble getting up stairs. I'm actually really scared about the
> prospect of having to use a wheelchair someday but i guess it's not
> that bad really. I think one study i read said that 1/3 of the
> patients eventually required wheelchairs and there was like 1 patient
> in a case report i read that was bedridden. I guess there's alot of
> individual variation with this disease, but the longer you have it the
> more it progresses. It's certainly frustrating not being as active and
> athletic as i was when i was younger, but it's always great to talk
> with others for support. Hope you all have a great summer!
>
> Ron
>
> --- In dysferlin@yahoogroups.com, "baw1064" <bwilliams163@> wrote:
> >
> > Glad to have you join the group. I have Miyoshi also, and had
> > symptoms beginning at 18. I'm 43 now, and have used a wheelchari
> > for the last 4 years. Like you, I found that not constantly having
> > to worry about falling was a big incentive to be willing to leave
> > the house.
> >
> > I'm sure there are several other members who will also be happy to
> > share their stories. Please ask any questions you may have.
> >
> > Brad
> >
> >
> > --- In dysferlin@yahoogroups.com, "biscuitsmom30" <soonerpgh@>
> > wrote:
> > >
> > > I was just diagnosed yesterday with Miyoshi Myopathy. I was
> > > originally diagnosed with LGMD when I was 18 (started having
> > symptoms
> > > at 15). They were able to diagnose me with Miyoshi after a blood
> > > test. I am 34 now and I have been using an electric wheelchair
> > for
> > > the past year. After a series of terrible falls, I decided that a
> > > wheelchair didn't sound so bad after all. It turned out to be a
> > good
> > > decision for me. I can now go places with my family and enjoy
> > their
> > > company instead of huffing and puffing and worrying about falling
> > the
> > > whole time. My legs are basically gone at this point and my arms
> > are
> > > weak, especially my biceps. I am married with 4 kids. Two boys
> > and
> > > two girls. I'm new to this disorder so any information is
> > appreciated.
> > > Thanks,
> > > Philip
> > >
> >
>

Glad to have you join the group. I have Miyoshi also, and had
symptoms beginning at 18. I'm 43 now, and have used a wheelchari
for the last 4 years. Like you, I found that not constantly having
to worry about falling was a big incentive to be willing to leave
the house.

I'm sure there are several other members who will also be happy to
share their stories. Please ask any questions you may have.

Brad

--- In dysferlin@yahoogroups.com, "biscuitsmom30" <soonerpgh@...>
wrote:
>
> I was just diagnosed yesterday with Miyoshi Myopathy. I was
> originally diagnosed with LGMD when I was 18 (started having
symptoms
> at 15). They were able to diagnose me with Miyoshi after a blood
> test. I am 34 now and I have been using an electric wheelchair
for
> the past year. After a series of terrible falls, I decided that a
> wheelchair didn't sound so bad after all. It turned out to be a
good
> decision for me. I can now go places with my family and enjoy
their
> company instead of huffing and puffing and worrying about falling
the
> whole time. My legs are basically gone at this point and my arms
are
> weak, especially my biceps. I am married with 4 kids. Two boys
and
> two girls. I'm new to this disorder so any information is
appreciated.
> Thanks,
> Philip
>

I just found out about mine, as you know, well, at least specifically what kind of mutant I am. 

Hey Philip!

Welcome. It's always great to meet other people with my disease on
here. I have Miyoshi like you and Brad which was diagnosed at 23. I'm
36 now and still walk without a wheelchair but can't run and have
trouble getting up stairs. I'm actually really scared about the
prospect of having to use a wheelchair someday but i guess it's not
that bad really. I think one study i read said that 1/3 of the
patients eventually required wheelchairs and there was like 1 patient
in a case report i read that was bedridden. I guess there's alot of
individual variation with this disease, but the longer you have it the
more it progresses. It's certainly frustrating not being as active and
athletic as i was when i was younger, but it's always great to talk
with others for support. Hope you all have a great summer!

Ron

--- In dysferlin@yahoogroups.com, "baw1064" <bwilliams163@...> wrote:
>
> Glad to have you join the group. I have Miyoshi also, and had
> symptoms beginning at 18. I'm 43 now, and have used a wheelchari
> for the last 4 years. Like you, I found that not constantly having
> to worry about falling was a big incentive to be willing to leave
> the house.
>
> I'm sure there are several other members who will also be happy to
> share their stories. Please ask any questions you may have.
>
> Brad
>
>
> --- In dysferlin@yahoogroups.com, "biscuitsmom30" <soonerpgh@>
> wrote:
> >
> > I was just diagnosed yesterday with Miyoshi Myopathy. I was
> > originally diagnosed with LGMD when I was 18 (started having
> symptoms
> > at 15). They were able to diagnose me with Miyoshi after a blood
> > test. I am 34 now and I have been using an electric wheelchair
> for
> > the past year. After a series of terrible falls, I decided that a
> > wheelchair didn't sound so bad after all. It turned out to be a
> good
> > decision for me. I can now go places with my family and enjoy
> their
> > company instead of huffing and puffing and worrying about falling
> the
> > whole time. My legs are basically gone at this point and my arms
> are
> > weak, especially my biceps. I am married with 4 kids. Two boys
> and
> > two girls. I'm new to this disorder so any information is
> appreciated.
> > Thanks,
> > Philip
> >
>

Glad to have you join the group.  I have Miyoshi also, and had
symptoms beginning at 18.  I'm 43 now, and have used a wheelchari
for the last 4 years.  Like you, I found that not constantly having
to worry about falling was a big incentive to be willing to leave
the house.

I'm sure there are several other members who will also be happy to
share their stories.  Please ask any questions you may have.

Brad


--- In dysferlin@yahoogroups.com, "biscuitsmom30" <soonerpgh@...>
wrote:
>
> I was just diagnosed yesterday with Miyoshi Myopathy.  I was
> originally diagnosed with LGMD when I was 18 (started having
symptoms
> at 15).  They were able to diagnose me with Miyoshi after a blood
> test.  I am 34 now and I have been using an electric wheelchair
for
> the past year.  After a series of terrible falls, I decided that a
> wheelchair didn't sound so bad after all.  It turned out to be a
good
> decision for me.  I can now go places with my family and enjoy
their
> company instead of huffing and puffing and worrying about falling
the
> whole time.  My legs are basically gone at this point and my arms
are
> weak, especially my biceps.  I am married with 4 kids.  Two boys
and
> two girls.  I'm new to this disorder so any information is
appreciated.
> Thanks,
> Philip
>

I was just diagnosed yesterday with Miyoshi Myopathy.  I was
originally diagnosed with LGMD when I was 18 (started having symptoms
at 15).  They were able to diagnose me with Miyoshi after a blood
test.  I am 34 now and I have been using an electric wheelchair for
the past year.  After a series of terrible falls, I decided that a
wheelchair didn't sound so bad after all.  It turned out to be a good
decision for me.  I can now go places with my family and enjoy their
company instead of huffing and puffing and worrying about falling the
whole time.  My legs are basically gone at this point and my arms are
weak, especially my biceps.  I am married with 4 kids.  Two boys and
two girls.  I'm new to this disorder so any information is appreciated.
Thanks,
Philip

Marian,

I just got my blood drawn at Children's today for the DNA study!
Thanks for mentioning it to the group members, and hopefully others
will benefit as well.

Best wishes,
Brad

--- In dysferlin@yahoogroups.com, "Ryan,Marian" <Mryan@...> wrote:
>
> Hi everyone,
>
>
>
> FYI, Children's Hospital in DC is planning to do a dysferlin panel
in
> the near future, running a gene analysis on the dysferlin gene
> specifically. They don't do it very often, as apparently it's not
> cost-effective to do it for just a patient or two. This is part of
a
> study they are doing to try to identify mutations, and
participation is
> free, though people not in the DC area may have to pay for
shipment of
> samples. No treatments are involved. If anyone is interested, I
believe
> they may be receiving blood samples shipped from other areas. Your
> neurologist or genetic counselor could probably contact them to
see if
> they're accepting more samples. The lab doing the study is Dr. Eric
> Hoffman's. The genetic counselors helping to coordinate the study
are
> Erynn Gordon (202-884-6065) and Meg Bradbury, who are also at
Children's
> National Medical Center.
>
>
>
> Cheers,
>
> Marian
>

Marian,

Actually, I just went to Children's today to get my blood drawn for
that study!  I agree, that is an excellent opportunity, and it will
be valuable not only for patients (if the specific type of mutation
can be determined) but also the researchers.  The more patients they
have to work with, they can make more conclusions of what type of
mutations occur, if they are more likely in different parts of the
gene, if there is a relationship between the mutation and the
symptoms, etc.

Best wishes,
Brad

--- In dysferlin@yahoogroups.com, "Ryan,Marian" <Mryan@...> wrote:
>
> Hi everyone,
>
>
>
> FYI, Children's Hospital in DC is planning to do a dysferlin panel
in
> the near future, running a gene analysis on the dysferlin gene
> specifically. They don't do it very often, as apparently it's not
> cost-effective to do it for just a patient or two. This is part of
a
> study they are doing to try to identify mutations, and
participation is
> free, though people not in the DC area may have to pay for
shipment of
> samples. No treatments are involved. If anyone is interested, I
believe
> they may be receiving blood samples shipped from other areas. Your
> neurologist or genetic counselor could probably contact them to
see if
> they're accepting more samples. The lab doing the study is Dr. Eric
> Hoffman's. The genetic counselors helping to coordinate the study
are
> Erynn Gordon (202-884-6065) and Meg Bradbury, who are also at
Children's
> National Medical Center.
>
>
>
> Cheers,
>
> Marian
>

Marian,

Actually, I just went to Children's today to get my blood drawn for
that study!  I agree, that is an excellent opportunity, and it will
be valuable not only for patients (if the specific type of mutation
can be determined) but also the researchers.  The more patients they
have to work with, they can make more conclusions of what type of
mutations occur, if they are more likely in different parts of the
gene, if there is a relationship between the mutation and the
symptoms, etc.

Best wishes,
Brad

--- In dysferlin@yahoogroups.com, "Ryan,Marian" <Mryan@...> wrote:
>
> Hi everyone,
>
>
>
> FYI, Children's Hospital in DC is planning to do a dysferlin panel
in
> the near future, running a gene analysis on the dysferlin gene
> specifically. They don't do it very often, as apparently it's not
> cost-effective to do it for just a patient or two. This is part of
a
> study they are doing to try to identify mutations, and
participation is
> free, though people not in the DC area may have to pay for
shipment of
> samples. No treatments are involved. If anyone is interested, I
believe
> they may be receiving blood samples shipped from other areas. Your
> neurologist or genetic counselor could probably contact them to
see if
> they're accepting more samples. The lab doing the study is Dr. Eric
> Hoffman's. The genetic counselors helping to coordinate the study
are
> Erynn Gordon (202-884-6065) and Meg Bradbury, who are also at
Children's
> National Medical Center.
>
>
>
> Cheers,
>
> Marian
>

Hi everyone,

I noticed that people had mentioned the dysferlin website which I
used to have.  Unfortunately that fell by the wayside, and now a
cybersquatter has claimed the domain name (which I'm sure they will
be happy to sell back to me at an exhorbitant price).  But, I've
posted the pages which had most of the medical information in
the "Files" section of the dysferlin group.  I've also updated the
permissions so that everyone can read them even if they aren't a
member of the group.

The files are in MS Word format (I'll take suggestions if I should
put them in a different format--I was too lazy to keep them in html,
because then navigating around would require updating all the links,
etc.)

Also, some information is out of date.  Most importantly, it says in
a few places that the function of dysferlin isn't known.  That's no
longer true; in 2003, it was shown that dysferlin is involved in
reparing damage to the cell membranes of muscle fibers.  Also, the
bibliography of research papers only goes up to about 2002.

Current research papers can be found by going to

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?
db=pubmed&cmd=search&term=dysferlin

Best wishes, everyone,
Brad

Hello again Ron,

And thanks again. That's really interesting and it's put my mind at
rest. Also don't feel so alone, all good!

Thanks,
Bex.


--- In dysferlin@yahoogroups.com, "xron922" <ronchao1@...> wrote:
>
> Hey Bex!
>
> I'm 36 now but had 2 muscle biopsies back when i was 23. The amount of
> muscle they take out for the specimen is so small that it has no
> effect on your function. In fact, you have to lose at least half of
> your muscle mass to notice any difference in function at all.
> Unfortunately, with the progressive nature of the disease, that
> invariably happens to all of us with the disease at some point. Glad
> to see others posting here too. I don't feel as alone anymore!
>
> ron
>
> --- In dysferlin@yahoogroups.com, "rebeccajread" <rebeccajread@> wrote:
> >
> > Hi, I'm so glad this group exists, given that this thing is so rare,
> > it's the last thing I expected to find but I'm so glad I did. Thank
> > you to everyone who has contributed.
> >
> > My name is Bex, I'm 28 and I had a muscle biopsy yesterday at the
> > national Hosp for Neurology and Neurosurgery (London). I'm pretty sure
> > it's going to confirm that I have one of the Dysferlinopathies. I'm
> > not sure which one yet. My brother (4 1/2 years older) has already had
> > the diagnosis after having been misdiagnosed with polymiositis
> > previously and undergoing various unhelpful drug treatments.
> >
> > I'm slightly confused as to why they needed to take a bit of muscle
> > away from me; couldn't they have done genetic tests? Also, I was a bit
> > concerned that taking muscle away from someone who has a problem with
> > thier muscles seems a bit counter intuative, still, I assume they know
> > what they are doing... I hope...
> >
> > I seem to have been on hospital waiting lists for ever, but I am due
> > to start physiotherapy in August now, no medication trials have been
> > sugested as yet.
> >
> > Personally I'm managing ok at the moment, definate lack of
> > stregth/wasting particularly in my right calf muscle, but it's not
> > getting in the way of living too much at all. I've been really lifted
> > to hear how active other group members are too.
> >
> > Appologies for the long message (and probable bad spelling), take care
> > all.
> >
> > Bex.
> >
>

Hi Ron,

Yes of course you're right about schizophrenia, as soon as I posted it
I realised I had been rather over general and misleading about
similarities with dysferlinopathy, I had purely been thinking of the
delayed onset factor. A bad example I'm afraid! Are we sure that
external/environmental factors have nothing to do with the triggering
of dysferlinopathy then? Thanks for your reply anyway, thanks for
clarifying things. I'd certainly be interested to have a look at
Brad's website, all information is gratefully appreciated.

Best wishes,
Bex.


--- In dysferlin@yahoogroups.com, "xron922" <ronchao1@...> wrote:
>
> Hey Bex!
>
> Great to hear from you and thanks for your post. I'm a surgeon but
> when I did my psychiatry rotation in med school, i remember that
> schizophrenia is based on family history but it is also a
> multifactorial disease in that it's believe that some other
> external/environmental factors may trigger it's onset. But it's true
> that it's rare in really young kids and is more common in later
> adolescent/early adult onset as is the dysferlin diseases. Brad, the
> founder of this group, used to have a fanstastic website with lots of
> resources and information. I can't remember the link but i'm sure that
> he could provide it if you ask. You can also do a medline search for
> the latest research articles but to date there are probably only a
> handful of papers out there. all the best!
>
> Ron
>
> --- In dysferlin@yahoogroups.com, "rebeccajread" <rebeccajread@> wrote:
> >
> > Hi Ron,
> >
> > This is a really interresting point. I'm affraid I don't know why
> > either. I work in mental health and the case is the same with for
> > example, Schizophrenia, there are many theories but no definitive
> > answers as to why. Have you found out anymore information on this
> subject?
> >
> > Best wishes,
> > Bex.
> >
> > --- In dysferlin@yahoogroups.com, "xron922" <ronchao1@> wrote:
> > >
> > > hey brad!
> > >
> > > You brought up an interesting topic. I have never had my DNA
analyzed
> > > but I may be curious in doing it after reading this. Does
anybody know
> > > why it would take a while for the disease to express itself? For
most
> > > people with Miyoshi Myopathy, it seems to be generally an adult
onset
> > > disease from what i've read. If the stop codon is mutated at birth,
> > > then shouldn't the disease be apparent in early childhood too? Or is
> > > there some trigger that causes the mutation to take place later in
> life?
> > >
> > > Ron
> > >
> > > --- In dysferlin@yahoogroups.com, "baw1064" <bwilliams163@> wrote:
> > > >
> > > > I wanted to ask everybody about something:
> > > >
> > > > One type of mutation is a "premature stop codon" essentially,
a DNA
> > > > sequence which tells the cell (prematurely) that it is the end of
> > > > the protein.  The result is that only part of the protein gets
made
> > > > and probably wouldn't be able to function normally (this is
> > > > certainly the case for dysferlin because at the very end of the
> > > > protein is the part which normally goes across the cell
> membrane, so
> > > > missing that would make the protein useless).
> > > >
> > > > There are some treatments which have been or are being tested
> > > > (mostly in DMD) which can cause the cell to read through the
> > > > premature stop codon and make a more or less normal protein.  A
> > > > question is how many people w/ dysferlin deficiency have
premature
> > > > stop codons, and if these treatments (if they turn out to work
for
> > > > other conditions such as DMD) would be useful in treating
dysferlin
> > > > deficiency.
> > > >
> > > > Anyway, has anyone had their DNA analyzed and found that they
> have a
> > > > premature stop codon?
> > > >
> > > > Best wishes,
> > > > Brad
> > > >
> > >
> >
>

Hi, I'm so glad this group exists, given that this thing is so rare,
it's the last thing I expected to find but I'm so glad I did. Thank
you to everyone who has contributed.

My name is Bex, I'm 28 and I had a muscle biopsy yesterday at the
national Hosp for Neurology and Neurosurgery (London). I'm pretty sure
it's going to confirm that I have one of the Dysferlinopathies. I'm
not sure which one yet. My brother (4 1/2 years older) has already had
the diagnosis after having been misdiagnosed with polymiositis
previously and undergoing various unhelpful drug treatments.

I'm slightly confused as to why they needed to take a bit of muscle
away from me; couldn't they have done genetic tests? Also, I was a bit
concerned that taking muscle away from someone who has a problem with
thier muscles seems a bit counter intuative, still, I assume they know
what they are doing... I hope...

I seem to have been on hospital waiting lists for ever, but I am due
to start physiotherapy in August now, no medication trials have been
sugested as yet.

Personally I'm managing ok at the moment, definate lack of
stregth/wasting particularly in my right calf muscle, but it's not
getting in the way of living too much at all. I've been really lifted
to hear how active other group members are too.

Appologies for the long message (and probable bad spelling), take care
all.

Bex.

Hi Ron,

This is a really interresting point. I'm affraid I don't know why
either. I work in mental health and the case is the same with for
example, Schizophrenia, there are many theories but no definitive
answers as to why. Have you found out anymore information on this subject?

Best wishes,
Bex.

--- In dysferlin@yahoogroups.com, "xron922" <ronchao1@...> wrote:
>
> hey brad!
>
> You brought up an interesting topic. I have never had my DNA analyzed
> but I may be curious in doing it after reading this. Does anybody know
> why it would take a while for the disease to express itself? For most
> people with Miyoshi Myopathy, it seems to be generally an adult onset
> disease from what i've read. If the stop codon is mutated at birth,
> then shouldn't the disease be apparent in early childhood too? Or is
> there some trigger that causes the mutation to take place later in life?
>
> Ron
>
> --- In dysferlin@yahoogroups.com, "baw1064" <bwilliams163@> wrote:
> >
> > I wanted to ask everybody about something:
> >
> > One type of mutation is a "premature stop codon" essentially, a DNA
> > sequence which tells the cell (prematurely) that it is the end of
> > the protein.  The result is that only part of the protein gets made
> > and probably wouldn't be able to function normally (this is
> > certainly the case for dysferlin because at the very end of the
> > protein is the part which normally goes across the cell membrane, so
> > missing that would make the protein useless).
> >
> > There are some treatments which have been or are being tested
> > (mostly in DMD) which can cause the cell to read through the
> > premature stop codon and make a more or less normal protein.  A
> > question is how many people w/ dysferlin deficiency have premature
> > stop codons, and if these treatments (if they turn out to work for
> > other conditions such as DMD) would be useful in treating dysferlin
> > deficiency.
> >
> > Anyway, has anyone had their DNA analyzed and found that they have a
> > premature stop codon?
> >
> > Best wishes,
> > Brad
> >
>