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0:00
Hi, everyone. I'm Carlo Rinaldi.
I'm an associate
professor in neuroscience
and a consultant neurologist
at the University of Oxford.
In the next few
minutes, I will try to
provide a comprehensive
outline of
a rare neurological condition
called spinal and bulbar
muscular atrophy,
all the way from genetic
and molecular understanding
of the mechanism
of pathogenesis,
to current therapeutic
approaches, which are now
finally starting to hit
the clinical stage,
and clinical phenotyping
in patients.
To this end, I will
indeed present
some real-world clinical
cases of misdiagnosis,
which frequently occurs in
the clinic with this disease,
hence the title of
the great imitator.
0:42
First of all, let's agree on
some of the nomenclature.
SBMA goes under many names.
The most common ones
are here in the slide,
Kennedy's disease or X-linked
spinal muscular atrophy type 1,
which refers, of course, to
the pattern of inheritance
of this condition,
or X-linked spinal and
bulbar muscular atrophy.
1:02
Dr. William Kennedy, in 1967,
initially described
this condition
with cardinal attributes of
a syndrome limited
to a bulbar and
spinal muscular
atrophy of late onset,
with prominent fasciculations
mainly affecting
the lower face and a typical
tract of an X-linked trait.
1:22
From a clinical point of view,
SBMA patients are characterized
by muscle atrophy
and muscle wasting,
affecting muscles proximally in
both upper body and lower body,
and also, bulbar muscles,
such as muscles of the
face with tongue atrophy,
prominent fasciculations
and cramps,
particularly in the initial
phases of the disease.
Together with these
neuromuscular symptoms
which are of adult onset,
patients also show signs of
androgen insensitivity,
such as breast enlargement,
testicular atrophy,
and reduced libido.
