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Primary dystonia misinterpreted as Parkinson disease: Video case presentation and practical clues.

ABSTRACT: Diagnosing dystonia can be challenging and depends on the recognition of subtle clinical signs. Due to clinical heterogeneity, variable age at presentation, and overlapping features with other disorders, dystonia is under-recognized. The presence of dystonic tremor is often a reason for misdiagnosis. We report an illustrative case of a patient with DYT1 dystonia who was originally misdiagnosed with Parkinson disease. Careful physical examination and history-taking can reveal dystonia and prompt appropriate diagnostic studies, which, in turn, can lead to potentially life-changing treatment. Our report illustrates typical challenges in the recognition and diagnosis of dystonia, and serves to increase clinicians' awareness of this disabling, but treatable, condition.

SUBMITTER: Klepitskaya O

PROVIDER: S-EPMC3863978 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Isolated dystonia and Parkinson disease (PD) are disorders of the basal gangliothalamocortical network. They have largely distinct clinical profiles, but both disorders respond to deep brain stimulation (DBS) in the same subcortical targets using similar stimulation paradigms, suggesting pathophysiologic overlap. We hypothesized that, similar to PD, isolated dystonia is associated with elevated cortical neuronal synchronization.To investigate the electrophysiologic characteristics of the sensorimotor cortex arm-related area using a temporary subdural electrode strip in patients with isolated dystonia and PD undergoing DBS implantation in the awake state.An observational study recruited patients scheduled for DBS at the University of California, San Francisco and the San Francisco Veterans Affairs Medical Center. Data were collected from May 1, 2008, through April 1, 2015. Findings are reported for 22 patients with isolated cervical or segmental dystonia (8 with [DYST-ARM] and 14 without [DYST] arm symptoms) and 14 patients with akinetic rigid PD. Data were analyzed from November 1, 2014, through May 1, 2015.Cortical local field potentials, power spectral density, and phase-amplitude coupling (PAC).Among our 3 groups that together included 36 patients, cortical PAC was present in primary motor and premotor arm-related areas for all groups, but the DYST group was less likely to exhibit increased PAC (P = .008). Similar to what has been shown for patients with PD, subthalamic DBS reversibly decreased PAC in a subset of patients with dystonia who were studied before and during intraoperative test stimulation (n?=?4). At rest, broadband gamma (50-200 Hz) power in the primary motor cortex was greater in the DYST-ARM and PD groups compared with the DYST group, whereas alpha (8-13 Hz) and beta (13-30 Hz) power was comparable in all 3 groups. During movement, the DYST-ARM group had impaired beta and low gamma desynchronization in the primary motor cortex.Isolated dystonia and PD have physiologic overlap with respect to high levels of motor cortex synchronization and reduction of cortical synchronization by subthalamic DBS, providing an explanation for their similar therapeutic response to basal ganglia stimulation.

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Primary dystonia misinterpreted as Parkinson disease: Video case presentation and practical clues.

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