I mention quite a lot now that girls get DMD but how you might ask? Firstly you need to know how girls become carriers. The genetic problem (lack of dystrophin) occurs in the X chromosome. So if the genetic problem happens to a boy because his genetic make up is XY he will always get DMD. A girl however becomes a carrier because one of her X chromosomes has the fault (their genetic make up is XX), but the remaining X takes over with it's code for dystrophin intact. Carriers can become severely manifesting carriers i.e. displaying some of the same characteristics of full blown DMD but have some sort of functional dystrophin.
Now the main point, (thanks to my friend Julie Gilmore for mentioning the term skewed X inactivation) how girls get DMD. I could be completely wrong about this but my limited understanding of skewed X inactivation is thus, instead of the other X chromosome taking over as per a carrier for some reason the other X does not work. Hence the inactivation of the code for dystrophin. This may not be the only way girls get DMD but I hope this sheds some light on it. So girls in rare cases do get DMD!
Extract
...Duchenne Muscular Dystrophy is a rare (approx. 1 in 3500 births in the UK) severe terminal muscle wasting genetic disease that gradually kills all the body’s muscle cells. Firstly it attacks the skeletal muscles, especially the legs, hips, arms and spine....
My book is from a man's perspective but DMD affects girls and boys similarly so to find out what we can go through please read my book DMD LIFE ART & ME!
EBOOK available here; https://www.smashwords.com/books/view/69702
Available on Amazon USA here; http://www.amazon.com/DMD-Life-Art-Ian-Griffiths/dp/1907652337/ref=sr_1_1?ie=UTF8&s=books&qid=1288120811&sr=8-1
Available on Amazon UK here; http://www.amazon.co.uk/DMD-LIFE-ART-AND-ME/dp/1907652337/ref=sr_1_1?ie=UTF8&s=books&qid=1288105302&sr=8-1
My new Ebook Poetic Diversions available to buy here; https://www.smashwords.com/books/view/206857
All links available in my website here; http://duchennemen.net16.net/Buy-my-books/
Foreword
I’m Ian Griffiths from South Wales. This book is a story of my life so far up to the age of twenty five years. I live with and suffer from the ill effects of DMD which stands for Duchenne Muscular Dystrophy. It is a severe muscle wasting disease and a life limiting terminal illness. It won’t kill you in six months in the traditional sense of ‘terminal’, but it’s far crueller than that, it steals every muscle in your body first and then kills you, anywhere up to the age of thirty. There have been cases of men living past that into their forties and fifties but only with drastic interventions such as ventilators and tracheotomies, more on this can be found by reading on.
I hope to cover a few things in this book, from a history of my childhood years to a more detailed history from sixteen years onwards and finally onto my current problems and triumphs. At times things I write may make you smile or may make you pause and think about the seriousness of life with this devastating disease. I really hope there will be a cure but currently for us supposedly ‘older’ guys with DMD (over twenty one), there seems very little hope. If I don’t see a cure in my lifetime, I hope my campaigning helps in some way bring it about for future generations, so another child won’t have to see their body wither and die before their time.
