The hereditary dystonias comprise a set of diseases defined by a common constellation of
motor deficits. These disorders are most likely associated with different molecular etiologies …

Primary dystonia is characterized by abnormal, involuntary twisting and turning movements
that reflect impaired motor system function. The dystonic brain seems normal, in that it …

Recent decades have witnessed dramatic increases in understanding of the genetics of
dystonia–a movement disorder characterized by involuntary twisting and abnormal posture …

Early-onset dystonia is an autosomal dominant movement disorder associated with deletion
of a glutamic acid residue in torsinA. We generated four independent lines of transgenic …

Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …

Introduction Early onset isolated dystonia (DYT1) is linked to a three base pair deletion
(ΔGAG) mutation in the TOR1A gene. Clinical manifestation includes intermittent muscle …

Advances in the genetics of dystonia have further elucidated the pathophysiology of this
clinically and etiologically heterogeneous group of movement disorders. Currently, 20 …

Primary torsion dystonia (PTD) has a broad clinical spectrum, with earlier onset of symptoms
associated with more generalized muscle involvement. The causes for most dystonia are …

Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically,
phenotypically and etiologically diverse and it is unknown whether their pathogenesis …

Primary dystonia is a movement disorder characterized by sustained muscle contractions
and in which dystonia is the only or predominant clinical feature. TOR1A (DYT1) and the …