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.
>