Abstract
<strong>Background:</strong> Trunk flexion and axial extension are characteristic symptoms of chorea–acanthocytosis (ChAc). <strong>Phenomenology Shown:</strong> A 41-year-old male with ChAc (confirmed by VPS13A mutations) reported that his involuntary axial movements were significantly ameliorated by either folding his arms over his chest or putting his hands behind his head. <strong>Educational Value:</strong> These apparent ‘‘sensory tricks’’ suggest a dystonic pathophysiology, and also merit further study to analyze their potential for symptom control in ChAc.
Highlights
Trunk flexion and axial extension are characteristic symptoms of chorea–acanthocytosis (ChAc)
Various types of axial movements are described in chorea– acanthocytosis (ChAc), including tongue protrusion, feeding dystonia, head drops, trunk flexion, and axial extension, which significantly affect the patient’s daily activities.[1,2]
As these axial hyperkinesias are generally unresponsive to oral medications, some patients may develop their own coping strategies, including our patient, who found a novel method to improve trunk flexion and axial extension
Summary
Trunk flexion and axial extension are characteristic symptoms of chorea–acanthocytosis (ChAc). Ethics Statement: All patients that appear on video have provided written informed consent; authorization for the videotaping and for publication of the videotape was provided.
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