Definition contributed by Susan Fox, MD, PhD
University of Toronto, Toronto Western Hospital
Movement Disorders Centre
Toronto, ON, Canada
Dystonia is a syndrome of abnormal, involuntary muscle movements due to sustained muscle contractions resulting in twisting and/or repetitive, patterned movements. The neural mechanism underlying all dystonias probably involves a common final pathway of reduced inhibition of thalamocortical output resulting in simultaneous contraction of agonist and antagonists muscles. Dystonia can affect either a single body part, termed focal dystonia; contiguous body parts called segmental dystonia; or can be generalized. Focal dystonias include blepharospasm, resulting in repetitive forceful eyelid closure; spasmodic dysphonia affecting speech; tongue, jaw opening and jaw closing called oromandibular dystonia; cervical dystonia or torticollis involving the neck.
Focal dystonia may also be task-specific eg writer’s cramp is dystonia affecting the hand/arm during the act of writing. Other examples of task specific dystonia include musician’s dystonia. Many patients experience worsening of dystonia with voluntary movement, termed action dystonia. Alternatively, dystonic movements can be suppressed by a tactile stimulus known as a sensory trick or geste antagoniste whereby touching the affected or an adjacent body part can reduce the dystonia.
There are many causes of dystonia. Primary dystonia may be either idiopathic (the commonest group in adults) or genetic and several DYT genes have been described. Dystonia can also be secondary to drugs, particularly dopamine antagonists called tardive dystonia. Dystonia can also be associated with perinatal cerebral palsy, Wilson’s disease, or acquired brain injury/lesions or associated with a number of neurodegenerative disorders such as Parkinson’s disease, Progressive Supranuclear Palsy, or Corticobasal Degeneration.
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