Originally Posted by xanadu

This is all very interesting.

Alice - you may be interested to know I am pigeon toed, and have memories of my brothers and school mates laughing at the way I walked from about 10. Not just the walk but the lack of arm swing as well. I guess it looked different - don't know now - kids can be cruelly honest! My calf bones actually curve - no one else in the family has this - but I have long forgotten about it. Could this mean the muscle weakness was there before the bones had grown strong ?

And I seem to be remembering another uncle that had swallowing problems and another great aunt ? Nothing serious ever found but very problematic for them. May mean nothing of course but they are siblings to the ones with severe general muscle weakness.

And I also found that a treatment for DOK7 is salbutamol. Interestingly enough I have been prescribed this on and off for the last 10 years to help my breathing episodes. The pattern of asthma I had was odd but the GPs kept using it. I did not have asthma as a child and was told it is very unusual to develop it as an adult - but non the less that was my 'diagnosis' until last year. Last year I had tests which confirmed the poor lung function but was told it was not asthma and to stop the puffer. Hard to know really ( trying to stay neutral here) but I think I have worsened in the last year.

Yes I can see this is would need a specialist working with the new discoveries. But why does a Neuro who is obviously out of his field try to intimidate and ridicule me ? Why not say - this is atypical, I do not know - let me think about this and make some calls ...