Elsevier

The Lancet Neurology

Volume 5, Issue 9, September 2006, Pages 780-790
The Lancet Neurology

Review
The diagnosis of dystonia

https://doi.org/10.1016/S1474-4422(06)70547-6Get rights and content

Summary

Dystonia is a movement disorder with many presentations and diverse causes. A systematic approach to dystonia helps to ensure that patients with this disorder receive optimum care. This Review begins with a summary of the clinical features of dystonia, followed by a discussion of other disorders to be considered and excluded before assigning the diagnosis of dystonia. Next, we emphasise the importance of classifying dystonia along several dimensions, and we explain how doing so aids in narrowing the differential diagnosis. The more common forms of dystonia are discussed in detail. Finally, we describe how to apply the clinical information for selection of appropriate laboratory investigations.

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

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

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