Clinical characteristics and treatment of dystonia

Abstract

Dystonia is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements, or abnormal postures. Its diagnosis is based on clinical characteristics. In dystonia, the pattern of abnormal posture or movement tends to be constant during the short term even if its severity fluctuates. This stereotypy often helps differentiate dystonia from psychogenic reaction. Dystonia may appear only during some specific task (task specificity) especially in its early phase, although it often becomes obscure during the long clinical course, resulting in persistent dystonic posture. Sensory trick or geste antagoniste means the change of severity triggered by some sensory input. Overflow phenomenon is the activation of muscles unnecessary to a task, hampering purposeful movement. Symptoms tend to be milder in the morning, with large individual variation of its duration (morning benefit). Symptoms of dystonia may abruptly appear or disappear (flip-flop phenomenon). Cocontraction, believed as an essential feature of dystonia, reflects a loss of reciprocal inhibition of muscle activities, causing involuntary simultaneous contractions of agonists and antagonists. "Negative dystonia," still an unaccepted feature of dystonia, is defined as non-paretic loss of central driving of muscle activities necessary to a task. Apraxia of lid opening/closure, paretic form of hand dystonia, dropped head syndrome, camptocormia, Pisa syndrome, cervical dystonia with limited range of head movement, or mandibular dystonia without cocontractions of masticatory muscles, can be explained with this concept at least in a subset of cases. Treatment of dystonia includes medication, botulinum toxin injection, intrathecal baclofen, surgical intervention, acupuncture and other alternative therapies, rehabilitation, and psychotherapy. Oral medication is usually an adjunct to more potent therapeutic options except for some specific indications like dopa-responsive dystonia. Botulinum toxin is usually the treatment of choice for focal dystonia. Deep brain stimulation can be considered for both focal and non-focal phenotypes of dystonia.