Axial Sensory Tricks in Chorea–Acanthocytosis: Insights into Phenomenology

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 hi...

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Detalles Bibliográficos
Autores principales: Bhidayasiri, Roongroj, Jitkritsadakul, Onanong, Walker, Ruth H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2017
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Video Abstracts
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498799/
https://www.ncbi.nlm.nih.gov/pubmed/28690922
http://dx.doi.org/10.7916/D8PV6RWW
Descripción
Sumario: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.

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