I'm a carrier of Becker MD. I need to know if there is a specific test to determine if I'm a manifesting carrier. I have been becoming increasingly weak and suffer from extreme fatigue. This has been a slow progression for the last 10-12 years now. I think I've been tested for just about everything imaginable except this.
I am a manifesting carrier of duchenne and your symptoms of becoming increasingly weak and extreme fatigue is very much the same as mine. They are looking into my genetics and DNA to find out more about it and how strong my faulty x chromosone is. have you had all those tests. Did you find out you was a carrier from a biopsy? Im only just getting my head around my diagnosis. it seems a difficult one to explain to someone. But you know how you feel in yourself and with those symptoms it seems you are manifesting as they are the main symptoms.
I too am a manifesting carrier of DMD - was diagnosed simply through blood tests - no biopsy. I am a spontaneous mutation but I am also thalidomide damaged and I often wonder if the thalidomide caused the DMD mutation. I am also mum to a son of 27 who has DMD. He was diagnosed at the age of 6, then i was diagnosed after him.