What is DMD?

So what is DMD? Many may know but for most it's a hidden unknown condition. Duchenne is an x linked recessive disease mainly affecting males but on occasion females too. It's a muscle wasting disease that affects skeletal muscles firstly meaning between the ages of 8-12 children are in a wheelchair, by 16-18 they may need ventilator support and heart issues may arise, sadly by the mid to late twenties death may usually occur.

Extract;
...At a genetic level, I have something called Exon fifty missing, which is known as a deletion. Exons’ are like letters or words in a genetic “sentence”. For instance say the normal “sentence” for Dystrophin is;
THE CAT AND TOM RUN FAR
In the case of my deletion the “sentence” looks like this; (imagine the letter “e” represents Exon fifty)
THC ATA NDT OMR UNF ARA
This is a nonsense mutation, one possible way of developing DMD. (More information at MDEX consortium and various DMD charities on the web)

However DMD is far more than cold facts, to read about a life affected by Duchenne then visit and buy here; http://duchennemen.net16.net/buymybook.html


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.