References for this review were identified by searches of MEDLINE done in May, 2006, as well as by collecting references from relevant articles. We also identified articles through searches of our own files. Various search terms were used including “dystonia”, “torticollis”, “dopa-responsive dystonia”, “DYT1”, “Wilson's disease”, “primary writing tremor”, “writer's cramp”, “myoclonus-dystonia”, and “rapid onset parkinsonism”. Abstracts and reports from meetings were also included. Only
ReviewThe diagnosis of dystonia
Introduction
Dystonia is a movement disorder characterised by patterned, directional, and often sustained muscle contractions that produce abnormal postures or repetitive movements. The term dystonia was coined by Hermann Oppenheim in 1911, when he applied the name dystonia musculorum deformans to a childhood-onset form of generalised dystonia.1 Today, almost 100 years later, many types of dystonia are recognised, which include primary (idiopathic) dystonia as well as dystonias secondary to another disorder (symptomatic). Examples include cervical dystonia, which forces the head to turn in a consistent direction, and blepharospasm, which produces involuntary eye closure. The protean clinical presentations of dystonia as well as the myriad of potential causes often lead to delay in diagnosis of dystonia and identification of its cause. Nevertheless, prompt and accurate diagnosis should be the goal as it is important for prognosis, for genetic counselling, and for individualising a course of treatment. In this article, we discuss our diagnostic approach to patients with dystonia.
Section snippets
Is it dystonia?
An important first step in the diagnosis of dystonia is recognition of abnormal movements as dystonic. The most distinctive characteristic of dystonic contractions is their consistent directionality. The movements are patterned and repeatedly involve the same muscle groups, unlike disorders such as chorea in which it is often impossible to predict which muscles will move next. The movements typically cause twisting of body parts (as the term torsion dystonia connotes) and are usually more
Classification of dystonia
Having ruled out another movement disorder or pseudodystonia as the cause of a patient's movements, the physician turns to the task of classifying the dystonia. Classification along each of several dimensions aids greatly in prognosis and guides the diagnostic work-up and therapeutic intervention (panel 1). These dimensions include anatomic distribution of muscles affected, age at onset, and cause of the dystonia. Other considerations that are potentially important in the diagnosis and
Assessment
The diagnosis of dystonia, like that of all neurological disorders, rests most firmly on the history and physical examination. A thorough history and complete physical and neurological examinations usually permit presumptive classification of the dystonia as primary or secondary (panel 2). This classification is important because the subsequent assessment substantially differs between the two types.
Applying the diagnosis
The ultimate goal of a precise diagnosis of dystonia is to enable an optimum therapeutic approach. Most patients with dystonia are treated with symptomatic treatments such as oral medication, chemodenervation with botulinum toxin, and surgical procedures that are not highly specific for the particular cause of the individual's dystonia. Nevertheless, assignment of a precise diagnosis enables better genetic counselling, more reliable estimation of prognosis, and more homogeneity in clinical
Search strategy and selection criteria
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