Publications by authors named "Anna M Spezzigu"
Int J Mol Sci
November 2023
Article Synopsis
- Pompe disease (PD) is a rare genetic disorder characterized by a deficiency in the enzyme acid α-glucosidase, leading to glycogen buildup and progressive muscle weakness, particularly affecting skeletal muscles and the nervous system.
- A clinical case of late-onset PD (LOPD) was diagnosed after the patient was misdiagnosed with other conditions, highlighting the necessity for thorough investigations including genetic and enzymatic studies.
- The findings underscore the importance of recognizing the diverse clinical manifestations of PD, which can resemble other muscle disorders, and suggest the need for further research into the disease's clinical spectrum.
