Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Adam P VogelNatalie RommelAndreas OettingerLisa H StollEva-Maria KrausCynthia GagnonMarius HorgerPatrick KrummDagmar TimmannElsdon StoreyLudger SchölsMatthis SynofzikPublished in: Journal of neurology (2018)
The dysphagia and dysarthria profile of this ARSACS cohort reflects impaired coordination and timing. Dysphagia contributes to a significant impairment in functional quality of life in ARSACS, and appears to manifest distinctly from other ARSACS dysfunctions such as ataxia or spasticity.