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Axial Sensory Tricks in Chorea-Acanthocytosis: Insights into Phenomenology.

ABSTRACT: BACKGROUND:Trunk flexion and axial extension are characteristic symptoms of chorea-acanthocytosis (ChAc). PHENOMENOLOGY SHOWN: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. EDUCATIONAL VALUE:These apparent "sensory tricks" suggest a dystonic pathophysiology, and also merit further study to analyze their potential for symptom control in ChAc.

SUBMITTER: Bhidayasiri R

PROVIDER: S-EPMC5498799 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Axial Sensory Tricks in Chorea-Acanthocytosis: Insights into Phenomenology.

Bhidayasiri Roongroj R Jitkritsadakul Onanong O Walker Ruth H RH

Tremor and other hyperkinetic movements (New York, N.Y.) 20170629

<h4>Background</h4>Trunk flexion and axial extension are characteristic symptoms of chorea-acanthocytosis (ChAc).<h4>Phenomenology shown</h4>A 41-year-old male with ChAc (confirmed by <i>VPS13A</i> 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.<h4>Educational value</h4>These apparent "sensory tricks" suggest a dystonic pathophysiology, and also merit further study to analyze t ...[more]

PMID: 28690922

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