It was only a testing for point mutations. So there could be still a deletion or duplication mutation, but my health assurence is not paying any testing anymore and in Switzerland it will cost as much as a monthly income to look exactly at the CLCN1 and SCN4A genes.
I'm sorry you can't confirm the type. I have Thomsen's and my mother never had any symptoms even though her EMG was positive. It's interesting how much variation there can be even within families.
Dr. Lehmann-Horn's lab in Ulm, Germany used to do full sequencing free for members of the Periodic Paralysis Association, but he retired several months ago and they quit offering the service.
Do you have myotonia affecting your eyes, tongue, throat, diaphragm, etc? That seems to be strongly associated with dominant MC...most of the people I know with Becker's don't seem to have as much trouble with the muscles in the face.
I was writing to Mr. Lehmann-Horn about two years ago. He let me fill in a form of 20 pages and then diagnosed a hyperPP with Myotonia, but he was not 100% sure. He didn't offer a free testing. He send me an estimate of costs and it was too much for me to pay.
Yes, I do have problems with the diaphragma ( in the water I cant breathe at all and after coughing a lot or singing I suffer from respiratory depression) and with my eye muscles (the inner ones) and a bit with my face (masticatory muscle), but my tongue and throat are not really affected. But when I speak for a longer time, I fell a kind of pain and my voice gets raucous, so I have to stop using my voice and be quiet for a cuple of hours or a day.
My EMG was positive. It cannot be Becker because my doughter has the same.