My son is 22 months now and was diagnosed 6 months ago. He has deletion of exons 3-30, that is in-frame. But because he is missing nearly 1/3 of the entire gene and he misses the beginning, doctors associate it with Duchenne. My question: is this group OUTLIERS for such cases?? He is so young, so we can't know by now how he will develop. Thanks, Simone
She based it on the fact that his deletion was inframe and his physical progression. She believes he is still producing dystrophin (even though we have never done a biopsy). He is still walking, running, jumping. The steroids improved his endurance. Just this month he began to wear inserts in his shoes. He was falling so much at school the physical therapist said the inserts would help. He is getting used to them and does seem to have better balance, they have definitely improved his posture. He turns 11 in February.
Simone & Elias said:
I cannot understand why this other neurologist gives a becker diagnosis?! When you look at the official Leiden database and entering in-frame 3-30 this is definitely Duchenne.
How old is Karsten now? And still developing?