Dysphonia, or abnormal voice quality, is common in children with Pompe disease, a study published in the Journal of Clinical Medicine demonstrated. According to the authors of the study, this primarily reflects impairments in respiratory and laryngeal function.

“However, the primary cause of dysphonia remains unclear,” the researchers wrote. They added that future studies should investigate how individual speech subsystems influence voice quality and motor speech performance in these patients.

Dysarthria, or difficulty speaking, is common among patients with Pompe disease, mostly due to bulbar and respiratory weakness. However, dysphonia due to dysarthria is not well described.

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In the present study, a team of researchers led by Harrison N. Jones, PhD, BRS-S, MA, a speech pathologist at Duke Health, sought to characterize vocal function in children with Pompe disease. 

They collected high-quality voice recordings from 21 patients with Pompe disease and used the grade, roughness, breathiness, asthenia, and strain (GRBAS) scale to assess voice quality. They then compared the ratings “to physiologic/acoustic measurements collected during sustained phonation tasks, reading of a standard passage, and repetition of a short phrase at maximal volume.”

They found that dysphonia was present in 90% of the children they assessed. This was mostly mild to moderate in severity. When they compared their data to published references on children without dysphonia, the researchers found that the duration of sustained phonation tasks was reduced while speech shimmer was increased. Moreover, the loudness of voice had a statistically significant relationship with perceptual ratings of grade, breathiness, asthenia, and strain.

“Our data suggest that dysphonia is common in children with Pompe disease and primarily reflects impairments in respiratory and laryngeal function,” the authors concluded. 

Pompe disease is characterized by the abnormal accumulation of glycogen in multiple tissues due to a deficiency in the acid-alpha glucosidase (GAA) enzyme, causing muscle weakness and cardiomyopathy. 


Crisp KD, Neel AT, Amarasekara S, et al. Assessment of dysphonia in children with Pompe disease using auditory-perceptual and acoustic/physiologic methods. J Clin Med. 2021;10(16):3617. doi:10.3390/jcm10163617