Duchenne Muscular Dystrophy

All forms of muscular dystrophy are painful, but Duchenne Muscular Dystrophy (DMD) is particularly bad, not least because, as things stand at present, it always ends in death. The term “muscular dystrophy” means a weakening of the muscles. In DMD, which only occurs in males (which may explain the lack of attention paid to it in the past), this weeklong begins early in life – usually at about age 4 – and gets worse quickly. While females have the defective gene, the impact on them is mild.

The first loss of muscular power appears around the pelvis, in the thighs, and in the upper arms. Most sufferers will be unable to walk by the time they reach age 12. They can also become intellectually disabled, and quite likely also to suffer from scoliosis.

The cause of Duchenne Muscular Dystrophy has been known for some time. It is, as one can guess, genetic, and more than 60% of cases come from the sufferer’s parents, while the rest for new mutations. The mutation in question takes place in the gene responsible for production of a protein called dystrophin, which looks after the cell membrane in the muscles.

It’s possible to diagnose the condition at birth, but that has been of little help since there is no cure – the use of braces can help; physical therapy can help; surgery can ease some of the symptoms; and steroids can slow down the progress of the disease, but nothing has been able to reverse the condition.

And now, at least for about 12% of DMD sufferers, the new drug Exondys 51 is producing a marked improvement. The majority of sufferers are still waiting for a cure (the average age of death from DMD is 26), but this new development brought about by academic medicine suggests that further progress in the relatively near future is quite likely.