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DYSTONIA AND DYSKINESIA - 11/09/11

Doi : 10.1016/S0193-953X(05)70347-6 
Francisco Cardoso, MD a, Joseph Jankovic, MD b
a Movement Disorders Clinic, Department of Neurology, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil (FC) 
b Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas (JJ) 

Riassunto

Oppenheim105 coined the term dystonia in a report of children who suffered from a condition characterized by uncontrollable muscular contractions that produced abnormal postures. Even prior to this description, however, the nineteenth century clinicians, including Gowers,48 described patients with similar movement disorder. With the exception of rare reports, such as the one on the use of stereotactic thalamotomy for dystonia,23 medical literature largely ignored this condition until 1976. In that year, Eldridge and Fahn30 published the first monograph on dystonia. The growing interest in this movement disorder since then is indicated by the growing number of published studies on dystonia in recent years. Important milestones in the research of this condition have been the realization that most cases of dystonia have neurologic and not psychogenic origin,87 the identification of genetic markers in some forms of dystonia,8 the use of high-dosage anticholinergic therapy,33 and the introduction of botulinum toxin.13

Dystonia is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements, or abnormal postures.1 Although dystonic movements are typically slow and at least transiently sustained, they also may be fast and brief. The characteristic feature of dystonia, not emphasized in the original definition, is the “patterned” aspect of the abnormal contractions. This means that the same group of muscles is always contracting to produce the abnormal posture. The definition implies that dystonia is a symptom rather than a specific disease; and there are many causes of dystonia, the most common of which is primary or idiopathic dystonia (Table 1).

Despite the large number of studies on dystonia, the second most common movement disorder seen in movement disorders clinics, this hyperkinesia often is misdiagnosed. For instance, on average, patients with blepharospasm, focal dystonia of the eyelids, are evaluated by 10 physicians before being diagnosed correctly.63 Although the clinical features of dystonia are becoming more frequently recognized, the disorder still is often wrongly attributed to stress or other psychological causes. The aim of this article is to provide an overview of classification, phenomenology, epidemiology, genetics, pathophysiology, neuropsychological aspects, and treatment. Emphasis is placed on dystonia associated with chronic exposure to neuroleptic medications.

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 Address reprint requests to Francisco Cardoso, MD, Department of Neurology-UFMG, Av. Pasteur 89/1107, 30150–290 Belo Horizonte MG Brazil


© 1997  W. B. Saunders Company. Pubblicato da Elsevier Masson SAS. Tutti i diritti riservati.
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Vol 20 - N° 4

P. 821-838 - dicembre 1997 Ritorno al numero
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