Hi Liam,

Thanks for writing. I've changed your posting privileges so that you can post
from now on without approval.

I'm sorry to hear of your sister's diagnosis. The people in Newcastle are very
good (they are the co-discoverers of dysferlin), so she's in good hands in terms
of diagnosis and testing.

In terms of the prognosis, the rate of progression does vary quite a bit between
people, so I wouldn't want to hazard a guess. We do know of patients who remain
ambulatory up to quite advanced ages. So, it's not at all a given that a
patient will necessarily lose the ability to walk.

I haven't seen any reports in the medical literature that breathing tends to be
significantly impaired. There are some reports that the heart can be affected
(cardiomyopathy), but this is rather uncommon (it's only been reported in a few
patients, out of hundreds of cases described in the medical literature) and
usually not very severe, when it does happen.

Of course, we're hoping for treatments in the not too distant future, as well.

Best wishes,
Brad

--- In dysferlin@yahoogroups.com, "liambyrne35" <liambyrne35@...> wrote:
>
> Hello Everyone
>
> I have only just registered. My sister is 35 years old. We live in Ireland.
She has experienced weakness in her leg muscles for the past number of years.
She can no longer run and her walking has become more leaned back. Her
consultant said that she had some form of myopathy and conducted a series of
tests which my sister got back today. The consultant says that her condition is
genetic and that the dysferlin gene is missing in her make up. He says that her
condition is very rare in Ireland and he will be sending her for more tests etc
to Newcastle in England.
>
> My sisters condition is getting worse.She now feels her arms and back are also
getting weaker. We are all now very worried for her. I googled dysferlin today
and came across your discussion group. Can anyone answer some of the following
questions for me please:
> Does this diagnosis definitely mean she will end up in a wheelchair ?
> What muscles are affected? Are non skeletal muscles eg muscles for breathing
affected ?
> I have tons of more questions but at this stage would be just so grateful for
any information. Thank you
>