The boy now 18 yrs is being managed and was clinically diagnosed on basis of highly raised CPK as DMD when he was not even 3 yrs. He was the 3rd in the same family to be affected by presumed DMD as his 2 sisters 5 and 7 yrs elder to him had almost similar physical affection and they expired at about 22 to 24 yrs of age, few yrs back. About a month back parents contacted me for any cure(stem cell therapy) or respite as the boy is completely bed ridden for last 8 yrs .Since 2 own sisters were similarly affected which raises doubt about the presumed diagnosis as its X-linked recessive.
Girls can be affected in Turners syndrome or by Lyon hypothesis .But how 2 elder own sisters be Turners.Its almost impossible and never recorded till now in history as far I could search. So i decided to do the genetic tests to confirm and to my dismay it came normal.The Gene study done in midst on May…
