%0 Journal Article
%T Analysis of voice quality in patients with late-onset Pompe disease
%A Anna Tylki-Szyma¨˝ska
%A Katarzyna Iwanicka-Pronicka
%A Krzysztof Szklanny
%A Ryszard Gubrynowicz
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0480-5
%X Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. The aim of this study was to employ electroglottographic, acoustic and nasalance measurement methods on patients with late-onset Pompe disease in order to provide detailed information on the effect of the disease on voice quality. Voice quality is the key factor for estimating the effectiveness of ERT in late-onset Pompe disease. The study compared clinical phoniatric examination with electroglottographic, acoustic and nasalance measurement methods. The consistency of the aforementioned analyses was assessed
%K Pompe disease
%K Metabolic disorders
%K Genetic disorder
%K Myopathy
%K Voice quality
%K Electroglottography
%K Acoustic methods
%K Vocal folds
%K Nasalance measurement
%K Voice disorders
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4946183/