Late-onset Pompe disease is associated with many features, one of which is a change to the voice, which may be noticeable in speech and voice quality. To investigate how this affects for patients over time, a recently published study followed up a group of patients with late-onset Pompe disease from 2014 to 2017. To read about this study in more detail, you can find it here, at Orphanet Journal of Rare Diseases.
About Late-Onset Pompe Disease
Pompe disease, also known as glycogen storage disease type II, is a genetic disorder caused by a sugar called glycogen accumulating in the body’s cells, resulting in damage. Pompe disease is often considered to be a single disease continuum, which has variable rates of progression and ages of onset. The disorder is often divided into multiple sub-categories, one of which is late-onset Pompe disease.
According to the NIH, the late-onset form of Pompe disease may not become noticeable until late childhood, adolescence, or adulthood. People with this form of Pompe disease develop muscle weakness, and, if it severely affects the muscles that control breathing, this may lead to respiratory failure.
The Study
To explore how late-onset Pompe disease may affect patients’ voices over time, researchers measured voice quality in fifteen patients with the condition. The patients, who were aged between 15 and 57, were first examined in 2014 using (i) perceptual assessment of voice quality on the RBH scale, (ii) electroglottographic recordings, and (iii) acoustic recordings. Three years later, in 2017, the same group of patients was re-assessed.
The Results
The study found that patients showed a deterioration in their voice quality over time, with an increase in glottic insufficiency (when the vocal cords cannot close completely), and a more tense voice. Two patients, both of who had undergone pre-symptomatic treatment, showed a stable voice quality from 2014.
