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Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)

Journal of Neurology Jul 05, 2018

Vogel AP, et al. - Given that dysarthria and dysphagia have been anecdotally described as key features of autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS), researchers sought to explore the nature, severity and impact of these deficits in ARSACS. For this investigation, 11 consecutive non-Quebec ARSACS subjects were enrolled. Findings revealed that impaired coordination and timing is reflected by the dysphagia and dysarthria profile of this ARSACS cohort. In ARSACS, dysphagia contributes to a significant loss in functional quality of life and manifests distinctly from other ARSACS dysfunctions, like ataxia or spasticity. Data reported that swallowing and speech-related quality of life were worse than healthy controls on all domains except sleep.

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