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