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Assessment of ADCY5-related Movement Disorders With Motion SENSors

Assistance Publique - Hôpitaux de Paris · 2022
ClinicalTrials.gov · Datasets · License: Public Domain · 2022
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coffeena
ADCY5-related movement disorders are caused by dominant mutations in the ADCY5 gene. This rare neurogenetic disease is characterized by childhood-onset generalized hyperkinetic movements. Currently, the only tools available to rate the severity of movement disorders observed in ADCY5-patients are clinical rating scales of abnormal movements. These scales use the investigators' judgement to rate globally the severity of movements observed in various body parts of the patient. This protocol proposes to investigate a multimodal approach, combining a clinical scale assessment with ViconTM's objective movement measurement. A secondary objective of the study is to assess the effect of coffee on ADCY5-patients.
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