Researchers from the University of Medina in Italy have determined that ultrasound of the diaphragm is an effective way to assess the respiratory function of people with late-onset Pompe disease, according to a report in Pompe Disease News.
LOPD is a genetic disorder caused by mutations in the GAA gene, which provides instructions for making an enzyme called acid alpha-glucosidase (GAA) that is responsible for the breakdown of a sugar molecule called glycogen.
Without this enzyme, glycogen starts accumulating inside cells until it reaches toxic levels, impairing certain organs and systems, especially the muscles. As a result, many LOPD patients develop progressive muscle weakness.
The diaphragm — the dome-shaped muscle that allows the chest to move with each breath — is often the most affected muscle in LOPD patients, and its dysfunction can lead to serious problems with respiratory function.
Diaphragm ultrasonography (DUS), or ultrasound, “is a relatively recent, easy to perform and reproducible technique that was utilized to evaluate diaphragm dysfunction in several respiratory diseases,” the researchers wrote.