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My name is
Professor Tom Warner.
I am a professor of
clinical neurology
at the Institute of
Neurology at UCL,
and this talk is concerning the
genetic basis of the dystonias.
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The dystonias are an unusual group
of hyperkinetic movement disorders
which are diagnosed
clinically, usually
by the presence of involuntary
sustained muscle spasms,
easily recognizable twisting
and repetitive movements,
and posturing, quite
often of the limbs.
At a very simplistic level they're
caused by abnormal processing
of motor commands within
the central nervous system.
They are often action-induced, so
they're brought on by movements.
And like many involuntary movement
disorders, they abate during sleep.
Dystonia itself can affect
almost any part of the body,
including the neck, the eyes, limbs,
larynx, mouth, and tongue, and so
can be very clinically heterogeneous.
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There's a long
history of description
of dystonia in
neurological literature.
Originally, it was termed
athetosis, which is effectively
synonymous with the
term dystonia, and it
goes back to Spanish
descriptions in 1897.
And the gentleman
described has marked
posturing of the limbs, the feet.
There is torticollis and the head is
pulled back, which is what we refer
to as retrocollis, and there's
also clearly an extended lumbar
lordosis.
Over the years, familial
forms have been described,
and in 1908, the first autosomal
dominant family was described.
And then the term dystonia actually
arose from Oppenheim in 1911.
In the 20th century the literature
extended and, particularly, it
was highlighted by David Marsden
from the Institute of Neurology,
where he realized there was a link
between these severe, generalized,
often familial forms, and the much
more common sporadic focal forms
affecting one part of the body, such
as torticollis and writer's cramp.
He realized that these were actually
passed off a pathogenic spectrum
in terms of the underlying processes
in the central nervous system
and that they were linked together.
Stanley Fahn, the other doyen
of dystonia, in New York
went on to study
these phenotypes more.
And this forms the
basis of what we really
understand clinically
about dystonia.
