The phenomenology and treatment of idiopathic adult-onset truncal dystonia: a retrospective review

Abstract

Background Focal dystonia is the most common type of adult-onset dystonia; however, it infrequently affects truncal musculature. Although commonly attributed to secondary etiologies such as a neurodegenerative illness or tardive syndromes, the entity of idiopathic adult-onset truncal dystonia has only been previously described in a few case reports and small case series. Here we characterize seven cases of adult-onset primary truncal dystonia and present them within the scope of the existing literature. Methods Retrospective chart review of medical records and patient videos of seven adult patients with idiopathic truncal dystonia evaluated by the senior movement disorder neurologists in an urban outpatient clinic. Results The mean age of onset of idiopathic truncal dystonia was 47.6 years old and the majority of patients were male. Truncal flexion was the most common direction of dystonic movement and the dystonia was most frequently induced by action and could be improved by use of a sensory trick. The majority of patients were refractory to 3 or more oral treatments and only two patients exhibited significant functional improvement with botulinum toxin injections. One patient enjoyed significant benefit with bilateral internal globus pallidus deep brain stimulation. Conclusions Although a relatively rare presentation, patients with idiopathic adult-onset truncal dystonia can be identified by a common phenomenology. Diagnosis of this highly disabling condition is important because these patients are frequently refractory to multiple oral treatments and may benefit from early treatment with botulinum toxin or deep brain stimulation. Electronic supplementary material The online version of this article (doi:10.1186/s40734-016-0044-9) contains supplementary material, which is available to authorized users.

Spectrum of Truncal Dystonia and Response to Treatment: A Retrospective Analysis

“…However, it can also occur as an idiopathic variety as reported previously. [ 3 11 ] The largest case series of eighteen patients of axial predominant primary truncal dystonia is reported by Bhatia et al . [ 3 ] Ehlrich et al .…”

“…reported seven patients of idiopathic truncal dystonia. [ 11 ] In both the series, flexion was the most common direction of dystonic movement. Around one-third of patients in our series belonged to the idiopathic variety.…”

“…Truncal extension was the most common direction of dystonic movement in contrast to the reports in the literature where flexion is more commonly reported. [ 3 11 ]…”

Globus Pallidus Internus Deep Brain Stimulation for Dystonic Opisthotonus in Adult-Onset Dystonia: A Personalized Approach

“…ATD is a major source of disability, occurring in either anteroflexion, retroflexion, lateroflexion or combined, and usually worsens with action or voluntary movement ( Lizarraga and Fasano, 2019 ). A non-fixed forward bending of the trunk (>45 degrees) caused by hyperactivation of the rectus abdominis muscles is defined as camptocormia, which is the most common presentation of idiopathic ATD ( Bhatia et al, 1997 ; Ehrlich and Frucht, 2016 ), although also described in association with Parkinson’s disease ( Azher and Jankovic, 2005 ). Another form of ATD is the dystonic opisthotonus, which is characterized by a backward arching of the trunk and neck due to overactivation of the paraspinal extensor muscles ( Bhatia et al, 1997 ; Benecke and Dressler, 2007 ; Ehrlich and Frucht, 2016 ).…”

“…A non-fixed forward bending of the trunk (>45 degrees) caused by hyperactivation of the rectus abdominis muscles is defined as camptocormia, which is the most common presentation of idiopathic ATD ( Bhatia et al, 1997 ; Ehrlich and Frucht, 2016 ), although also described in association with Parkinson’s disease ( Azher and Jankovic, 2005 ). Another form of ATD is the dystonic opisthotonus, which is characterized by a backward arching of the trunk and neck due to overactivation of the paraspinal extensor muscles ( Bhatia et al, 1997 ; Benecke and Dressler, 2007 ; Ehrlich and Frucht, 2016 ). A less common presentation of ATD is the reversible lateral bending of the trunk, with a tendency to lean to one side, sometimes described as Pisa syndrome ( Bhatia et al, 1997 ; Barone et al, 2016 ; Ehrlich and Frucht, 2016 ; Lizarraga and Fasano, 2019 ).…”