Please wait while the transcript is being prepared...
0:00
My
name is Jeff Chamberlain
and I'm at the
University of Washington.
I'm going to discuss gene therapy
for the muscular dystrophies.
Most of my lecture will focus
on Duchenne muscular dystrophy,
which is the most common form.
0:15
The muscular dystrophies are a group
of single-gene inherited disorders.
There are many different types
of muscular dystrophy, several
of which have still
not been identified.
Most of the different types of
muscular dystrophy cannot be
distinguished at a clinical level
and that requires genetic testing
to tell which type
an individual has.
The muscular dystrophies
share the common feature
of having progressive
muscle weakness.
It generally affects the
skeletal or the limb muscles,
but it can also affect
cardiac and smooth muscles.
Sometimes the central nervous
system is involved, particularly
in the early onset or the
congenital muscular dystrophies.
Different types of
muscular dystrophy
can arise either soon
after birth, in childhood,
or in older individuals.
And even though the muscles
are the same in every person,
the different types
of muscular dystrophy
can have different effects
on different muscles.
1:11
As shown in this slide, there
are many different types
of muscular dystrophy characterized
by a variety of different names.
At the top, I've highlighted
Duchenne Muscular Dystrophy,
or DMD, as well as limb-girdle
muscular dystrophy.
These tend to be the most
common of the recessively
inherited the muscular dystrophies.
There are many different types of
limb-girdle muscular dystrophy,
and the list keeps
growing as more genes are
identified as causing
these disorders.
At the bottom of the list
are indicated FSHD and DM.
These represent facioscapulohumeral
muscular dystrophy
and myotonic dystrophy.
These are the two
most common dominantly
inherited muscular dystrophies.
And even though this slide,
which is somewhat old,
indicates that the FSHD
gene was not known.
It has in the last
few years been shown
to be caused by altered copy
number of the DUX4 gene.
