In this lecture, we're going to talk
about some other muscular dystrophies.
Again, this is a class
of conditions that are
disorders that are inherited.
And here we're going to talk about
some of those that are less common.
There are five names, five other muscular
dystrophies that I'd like for you to know.
One is FSHD or Facioscapulohumeral
Scapuloperoneal muscular dystrophy,
Emery-Dreifuss muscular dystrophy,
oculopharyngeal muscular dystrophy
and mitochondrial myopathies.
For most of these conditions,
they're named after the sight of weakness.
So with Facioscapulohumeral
the weaknesses in the face, the proximal
muscles of the limb-girdle and the humerus,
the Facioscapulohumeral regions.
For Scapuloperoneal muscular dystrophy,
the weakness occurs in the scapula
and the perinatal muscles.
And oculopharyngeal muscular
dystrophy affects the
ocular muscles of motility of the eyes and
the pharynx swallowing in head movement.
So this will tip us off to the clinical
presentation of many of these disorders.
But two we're going to focus on
specifically in this lecture.
Let's start with FHSD,
Facioscapulohumeral muscular dystrophy,
this is a muscular dystrophy.
It is inherited so patients present
either with the family predisposition
or with symptoms early on in their
young adolescence or teenage years.
It is a muscular dystrophy so the problem
is with degeneration of the muscles
and FSHD affects several
very typical muscle groups.
First is the face and this condition
can present with bifacial weakness,
one of the only muscular
dystrophies that we see
that presents with
prominent bifacial weakness.
The other condition would be myotonic
dystrophy and those are two to think about
with prominent bifacial
weakness in this situation.
There's scapular winging
or scapular weakness,
and we see that with winging
or weakness of the scapula
in this condition.
There's humeral weakness and
that's weakness of the proximal arm
as you can see here,
in the schematic.
It's often asymmetric.
And this presentation
should really tip us off
to be concerned about
FHSD muscular dystrophy.
The second is
This is another
so degenerative muscle
disorder that is inherited.
Patients often present
in their teenage years.
This was named after two
physicians, Emery and Dreifuss,
who noticed an inherited syndrome
that ran in family in Virginia.
develop symptoms early
by around the age of 10 years
or in their teenage years.
This is a slowly progressive
that has prominent weakness in the proximal
upper extremities that scapular wingings,
the muscles around the scapula
and the distal lower extremity
as you see in the
This condition can present with prominent
cardiac conduction abnormalities.
We don't see that with FSHD
and we do see conduction
abnormalities with Emery-Dreifuss.
And that's two important differences in
these two types of muscular dystrophy.
In this condition, weakness of the
muscles that make up the shoulder
and upper arms and the calf
muscles of the legs is prominent
and that should tip us off to a
diagnosis of Emery-Dreifuss syndrome.