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0:00
Hello, I'm Annemieke
Aartsma-Rus,
and I will give an introduction
to Duchenne muscular dystrophy.
0:07
Before going into this,
I will give some disclosures.
I've been working on Duchenne
muscular dystrophy for
over 25 years, and in that
time, I've made discoveries.
My employer, Leiden
University Medical Center,
has patents based on these
discoveries called exon-skipping,
and I'm a co-inventor
and, as such,
entitled to share royalties.
I'm also doing
consulting and advising
and sometimes present
at company symposia,
and all the remuneration for
that goes to my employer,
so Leiden University
Medical Center, and not me.
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Duchenne muscular dystrophy is
a severe progressive disease
where patients gradually
lose muscle function.
Usually, this leads
to loss of ambulation
around the age of 10-12 years,
the need for
assisted ventilation
at around the age of 20,
and death in the second
to fourth decade of life,
and that is with
supportive care.
Without supportive
care, patients would
die usually before
the age of 16.
The reason patients
gradually lose muscle is
that their muscles don't produce
a protein called dystrophin.
We need dystrophin in order to
stabilize the muscle fibers
during muscle contraction.
We also need dystrophin in the
heart to prevent pathology,
because the heart is, of
course, also contracting.
There's also dystrophin
in the brain.
We do not fully understand
the function yet,
but we do know that
Duchenne patients
don't make dystrophin
in their brain.
What we see on average is
that the IQ of patients is
shifted one standard deviation
towards the lower IQs.
So there is a distribution.
There are patients who have
intellectual disabilities,
but there are also patients
who have academic careers.
There are learning difficulties
that are more common,
and there's also a higher
risk for autism and
other behavioral changes
in this population.
I mentioned already that
patients don't make dystrophin,
