Abstract
BackgroundLate-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.MethodsIn 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).ResultsThree 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.ConclusionsThe 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.
Highlights
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
Pompe disease is a progressive metabolic myopathy caused by a deficiency of lysosomal alpha-glucosidase
All the patients were on enzyme replacement therapy (ERT)
Summary
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. Pompe disease (glycogen storage disease type II, GSD II) is a progressive metabolic myopathy caused by a deficiency of lysosomal alpha-glucosidase. This leads to an accumulation of glycogen, mainly in the muscles, causing their progressive impairment. The spectrum of clinical phenotypes includes an infantile form (classic form) and a late-onset form (with both juvenile and adult presentation). The disease has a damaging effect on the functioning of the skeletal muscles, with sufferers eventually confined to a wheelchair and requiring ventilator-assisted breathing
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