Objective: We provided a prospective clinical and neurophysiological study of movement disorders (MD) in a Wilson’s disease (WD) patients’ cohort to investigate the sensitivity of neurophysiology compared to clinical diagnosis subtype of MD and therapeutic consequences of neurophysiological diagnosis. These MD diagnosed with neurophysiology were correlated with the biological and radiological data of the patients.

Background: WD is a genetically determined copper metabolism disorder that causes liver and neurological disorders. Effective treatments (chelators, zinc) exist. The clinical features of neurologic presentations are highly variable. MD are frequent and various types have been described in previous clinical studies. Surface polymyography (EMG) combined with accelerometry is commonly used for the analysis of many types of hyperkinetic MD, mainly myoclonus or tremor. While this tool is used classically in other pathologies for diagnostic or therapeutic purposes, no neurophysiological description of MD has been published in a WD patients’ cohort so far.

Method: WD patients with hyperkinetic MD at clinical examination were prospectively included. Neurophysiology was assessed twice, first for diagnosis and secondly during follow-up. Clinical, biological and brain MRI evaluations were conducted initially and during follow-up in the WD reference center.

Results: Thirteen WD patients were included. Six were women, the mean age was 37 years (±15 SD), and the mean disease duration was 10 years (±10 SD). EMG identified ten patients with tremors, including seven postural, six resting, four orthostatic and two kinetic tremors. Two patients had Holmes tremor. Functional tremor was evidenced in four patients. In two of them, MD persisted, after respectively  50 and 8 months, with regression of functional features. Myoclonus was recorded in five patients.

Conclusion: Tremors were the main MD, especially posture and rest tremors, associated with dystonia, parkinsonism and ataxia. EMG identified myoclonus, orthostatic and Holmes tremors, which were not described by the sole clinical examination and exceptionally in literature.

EMG had thus an additional value, helping the clinician to identify MD that escaped clinical diagnosis, and to adapt treatment, especially in myoclonus.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-clinical-and-neurophysiological-study-of-movement-disorders-in-wilsons-disease/