In
May 2005, Mark (my husband) and I were devastated by the news that
our dear son Murray has been diagnosed with the Terminal, muscle-wasting
disease Muscular Dystrophy - Specifically, Duchenne Muscular Dystrophy.
This is the most aggressive, and commonest form of the 26 or so
variants of this disease.
All
the muscular dystrophies are caused by faults in genes (the units
of inheritance that parents pass on to their children) and they
cause progressive muscle weakness because muscle cells break down
and are gradually lost. The Duchenne type affects only boys (with
extremely rare exceptions) and a problem in this gene is known to
result in a defect in a single important protein in muscle fibres
called dystrophin. It is named after Dr Duchenne de Boulogne who
worked in Paris in the mid-19th century who was one of the first
people to study the muscular dystrophies.
About
a 100 boys with Duchenne muscular dystrophy are born in the UK each
year. There are about 1,500 known boys with the disorder living
in the UK at any one time. For the general population the risk of
having an affected child is about one in every 3,500 male births.
Unfortunately
no cure has yet been discovered. But there are ways to manage the
condition which help with its complications. These have had a very
important impact on the quality and length of life that can be expected
with this condition. A great deal can be done to help limit the
effects of the muscular dystrophy and this includes treatments which
are now definitely known to help some of the problems which may
be life threatening, but no treatment is known which affects the
actual loss of muscle cells though. |