Louise,

I can understand your paranoia about being suspect of your pains. Take
comfort in how rare this is and that it is a recessive trait not likely to have
been passed to you or your sister. I am constantly wondering if my aches and
pains are related to this or if they are just natural aging pains. I did a lot
of housework yesterday and my feet and back are killing me.

The weakness in my arms seem to be mostly the upper arms. They get tired
quickly with any overhead tasks. I gave my husband a hair cut and with in ten
minutes my arms started aching. I really wouldn't have thought it was related
except that I had an EMG test done and they tested my calves, thighs, hands and
upper arms and the test showed abnormalities in all areas. I do a lot of typing
at work and sometimes my shoulders will start hurting.

Take care,

Donna

--- In dysferlin@yahoogroups.com, Louise Needham <louiseneedham@...> wrote:
>
>
> Hi Donna,
>
>
>
> I guess I assumed that having children made things worse because my mum
started showing symptoms at her first pregnancy, and they got worse after her
second (me). Also, my aunt had no children and is only mildly affected at age
56. However, this is probably a coincidence, and just shows that everyone is
affected differently. My mum's walking has been affected for a long time, but I
don't think her knees started bending like that until about 10 years ago or so
(when she was in her early 40s). But even that was at least 10 years after
symptoms of LGMD started. It probably depends how big the mutation in your gene
is, and how much wear and tear you put yourself through.
>
>
>
> Since mum was diagnosed, we've been told that it's unlikely to get passed on.
But because the mutation is not known they can't test my dad for carrier-status.
I feel stupid for thinking it, but me and my sister get paranoid every time our
legs hurt!
>
>
>
> Is it your upper or lower arm that is weak (sorry I can't remember the proper
names for the muscles!)? Also, do you get pains in your hands? My mum has
quite strong arms (which helps), but has been mentioning having pains in her
hand recently. This might be pressure from using her walking sticks though.
>
>
>
> Best wishes,
>
> Louise
>
>
>
> To: dysferlin@yahoogroups.com
> From: deejlouise@...
> Date: Sun, 19 Apr 2009 20:29:29 +0000
> Subject: [dysferlin] Re: Non-dysferlin LGMD
>
>
>
>
>
>
>
> Louise,
>
> I live in Iowa, USA.
>
> You are also the first family I've come across that has what I have. Doctors
just know that I don't have dysferlin deficiency and that I have many of the
same symptoms as those that do. Along with my tip-toe issue, I have a lot of
fatty infiltration in my back muscles as well as muscle weakness in my calves,
thighs and arms. I mentioned that my brother is showing symptoms, but he hasn't
gone through any of the tests that I have been through. I don't know of anyone
else on my mother's side of the family that had this, so it must have been a
long ways down the family tree. Because this is on the recessive gene, no one
really thought about it being passed down, since my mom was definitely not
related to my dad.
>
> I'm very interested in how pregnacey affected your mother. I would still like
to have children, but because of my age (39) and not knowing how pregnancy would
affect my body, I wonder what I could possibly expect to happen. I know that
LGMD affects people differently so I know that how pregnancy affected her, may
not affect me in the same way, but being prepared would make it easier to
accept. I shouldn't have waited so long to start a family. :) I'm not totally
convinced that pregnancy has anything to do with the progression of LGMD since
my grandfather suffered quite severely from this and obviously he didn't give
birth! You cannot assume that because your mother had you, that she was worse
off. Also, how old was you mother when her knees began bending crazy? How old is
your aunt that suffers with this?
>
> Regards,
>
> Donna
>
> --- In dysferlin@yahoogroups.com, Louise Needham <louiseneedham@> wrote:
> >
> >
> > Hi Donna,
> >
> >
> >
> > Thanks for replying so quickly! You're the first family I've heard of who
are dysferlin-positive as well, and it sounds like you have similar symptoms. My
mum was the first one in the family who had this (as far back as we know), but
now that my aunt has it at least we can assume it's recessive and not a new
mutation. It seems like such a rare thing, the specialist kept asking if my
grandparents were related since they must have both been carriers! (They weren't
though).
> >
> > Since the muscles in my mum's thighs are so wasted, she can't support
herself with her knees bent the right way. So I think it just started happening
when she was walking, her knees started hyperextending backwards because she
couldn't support them. The specialist we saw a couple of years ago said if she
carried on walking like that, eventually her knees would dislocate. He gave her
braces to wear that stopped her knees bending, but after walking like that for
so many years she couldn't get used to them. My aunt seems to be affected much
less severely, her knees don't bend back, but her muscles are a bit weak and she
can't stand on tip-toes. I think it affects you worse if you've had children,
which makes me feel awful!
> >
> > My mum has used walking sticks as long as I can remember (I'm 21), and her
walking has gotten gradually worse over the years. She still manages to go short
distances, but I was worried she was exerting herself too much, and now she uses
a wheelchair for the more strenuous things like shopping. My mum still stays
active - swimming is a good thing for her to do because she can use her arms
mostly.
> >
> > Just out of interest, where abouts are you? I'm in Newcastle, England.
> >
> >
> >
> > Best wishes,
> >
> > Louise
> >
> >
> >
> >
> >
> > To: dysferlin@yahoogroups.com
> > From: deejlouise@
> > Date: Thu, 16 Apr 2009 00:13:08 +0000
> > Subject: [dysferlin] Re: Non-dysferlin LGMD
> >
> >
> >
> >
> >
> >
> >
> > Hi Louise,
> >
> > What your mum and aunt suffer from sounds exactly what my grandfather
suffered from. They didn't have a diagnosis for him back when he first started
showing signs. They just diagnosed him with muscular dystrophy. He started
showing symptoms when he was in his late 30's and was wheelchair bound by his
60's. When I was a little girl, he was already using a cain to walk. His knees
would bend back too. I wasn't close to my grandfather as my folks were divorced
and he lived in a different state. But I do remember those few things. I now am
suffering from some non-dysferlin LGMD. I'm 39 years old and started noticing
symptoms about 2 years ago. I've under gone several tests, but all tests show
that dysferlin is present and functioning. I have 4 brothers and one of them (a
year older than me) is also developing symptoms. I only seem to have issues with
toe walking as my calf muscles have wasted away to practically nothing. My
brother, however, mentioned burning sensations around his knees, which I'm
wondering if this is perhaps the beginnings of the crazy bending of the knee. He
has also mentioned issues with tip-toe. I would be interested in keeping up with
your mother's progress, as she seems to be on the same path of progression I'm
heading towards.
> >
> > I'll stop rambling now...
> >
> > Donna
> > --- In dysferlin@yahoogroups.com, "louiseneedham21" <louiseneedham@> wrote:
> > >
> > > Hi I'm Louise, this is my first post.
> > > I don't have LGMD, but my mum has suffered with it for about 25 years now.
Interestingly, she only started to show symptoms during her first pregnancy,
aged 28. Now at 53, she is making the transition from walking sticks to
wheelchair, but hopefully she won't be completely dependent on the chair.
> > > I'm trying to find out more information, because my mum has one of the
rare types of LGMD where her dysferlin function is normal. It is not known what
gene mutation causes her condition, but they assume it is recessively inherited
and that me and my sister will not be affected. My aunt is just starting to show
symptoms now, at 56 and going through menopause! I was just wondering if anyone
knows anything about it, or even knows someone that has this.
> > > My mum has a lot of muscle wastage on her thighs, and when she walks her
knees bend back at a horrible angle. However, her arms don't seem to be
affected. Like most of you, she can't stand on her tip-toes and falls over a
lot.
> > > Any information would mean a lot,
> > > Thanks, Louise.
> > >
> >
> >
> >
> >
> >
> >
> >
> >
> >
> > __________________________________________________________
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