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.
Read more from Pompe Disease News and find the study in Neurological Sciences.