Phenotypic Variability in Acquired and Idiopathic Dystonia

Abstract

Background: To date, a few studies have systematically investigated differences in the clinical spectrum between acquired and idiopathic dystonias.

Objectives: To compare demographic data and clinical features in patients with adult-onset acquired and idiopathic dystonias.

Methods: Patients were identified from among those included in the Italian Dystonia Registry, a multicenter Italian dataset of patients with adult-onset dystonia. Study population included 116 patients with adult-onset acquired dystonia and 651 patients with isolated adult-onset idiopathic dystonia.

Results: Comparison of acquired and idiopathic dystonia revealed differences in the body distribution of dystonia, with oromandibular dystonia, limb and trunk dystonia being more frequent in patients with acquired dystonia. The acquired dystonia group was also characterized by lower age at dystonia onset, greater tendency to spread, lower frequency of head tremor, sensory trick and eye symptoms, and similar frequency of neck pain associated with CD and family history of dystonia/tremor.

Conclusions: The clinical phenomenology of dystonia may differ between acquired and idiopathic dystonia, particularly with regard to the body localization of dystonia and the tendency to spread. This dissimilarity raises the possibility of pathophysiological differences between etiologic categories.

Keywords: acquired; clinical phenomenology; dystonia; idiopathic.

FIG. 1

Body distribution of dystonia in patients with acquired dystonia (A), and idiopathic isolated dystonia (B), either including or excluding patients with family history of dystonia. BSP, Blepharospasm; OMD, oromandibular dystonia; LD, laryngeal dystonia; CD, cervical dystonia; TS‐ULD, task‐specific upper limb dystonia; NTS‐ULD, non‐task‐specific upper limb dystonia; LLD, lower limb dystonia; TD, trunk dystonia.