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01.12.2018 | Research | Ausgabe 1/2018 Open Access

Orphanet Journal of Rare Diseases 1/2018

Follow-up analysis of voice quality in patients with late-onset Pompe disease

Orphanet Journal of Rare Diseases > Ausgabe 1/2018
Krzysztof Szklanny, Anna Tylki-Szymańska



Late-onset Pompe disease (LOPD) is a metabolic myopathy disorder characterized by progressive muscle damage and among others dysfunction of the voice apparatus, which affects speech and – above all – voice quality. Symptoms include dysphonia, instability, glottic insufficiency, and tense voice. The aim of this study was to evaluate and compare voice quality disorder in a group of 15 LOPD patients who were first examined in 2014 and then re-examined in 2017.


In both 2014 and 2017, the same 15 LOPD patients, ranging in age from 15 to 57, from 10 different families, underwent the following examinations: perceptual assessment of voice quality on the RBH scale, electroglottographic recordings, and acoustic recordings. All the patients were on enzyme replacement therapy (ERT).


Three years after the 2014 study, the LOPD patients demonstrated a deterioration in voice quality. A statistically significant increase in glottic insufficiency (p = 0.0399) and a shift towards tense voice (p = 0.0417) were observed. Two patients – out of three who had received presymptomatic treatment – demonstrated stable voice quality compared with 2014.


The results suggest increased muscle weakness and progression of LOPD. The parameters Closed Quotient (calculated on the basis of an electroglottographic signal) and Peak Slope (calculated on the basis of an acoustic signal) proved to be the most sensitive.
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