Louis,
I read recently through DNA study that 17 variations of LGMB exists. Some
over next years will be renamed.
Stephen
--- 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.
>