Article
Auditory-perceptual voice and speech evaluation in ATP1A3 positive patients.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Nov 2020
Moya-Mendez Mary E, Madden Lyndsay L, Ruckart Kathryn W, Downes Karen M, Cook Jared F, Snively Beverly M, Brashear Allison, Haq Ihtsham U
Abstract excerpt
INTRODUCTION: Bulbar symptoms are frequent in patients with rapid-onset dystonia-parkinsonism (RDP). RDP is caused by ATP1A3 mutations, with onset typically within 30 days of stressor exposure. Most patients have impairments in speech (dysarthria) and voice (dysphonia). These have not been quantified. We aimed to formally characterize these in RDP subjects as compared to mutation negative family controls....
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