Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

ABSTRACT:

Importance

Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has identified early muscle weakness. Biomarkers may be uninformative; thus, non-invasive imaging is needed to assess early LOPD muscle changes. Muscle ultrasound (US) measuring echointensity (EI) is a non-invasive measure of muscle health.

Objective

In this study, we aimed to evaluate if EI can identify characteristic patterns of muscle involvement in LOPD patients identified by NBS.

Design/setting

Prospective, cross-sectional, single time point study.

Setting

One-center study.

Participants

We examined

SUBMITTER: Jackson D 

PROVIDER: S-EPMC10475841 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature