High-risk screening of late-onset Pompe disease: A different early portrait in China.

ABSTRACT:

Introduction

The lack of knowledge regarding the differences between Chinese and other ethnicities in the early manifestation of late-onset Pompe disease (LOPD) prohibits the development of an effective screening strategy. We conducted a multicenter screening study to determine LOPD prevalence in high-risk populations and define the early manifestation of LOPD in China.

Methods

Between August 2020 and April 2021, the participants were prospectively identified through medical examination at 20 centers from inpatient departments and outpatient neuromuscular clinics in China. The inclusion criteria were as follows: (1) age ≥ 1 year and (2) either one of the following conditions: (a) persistent hyperCKemia, (b) muscle weakness of the axial and/or limb-girdle muscles, or (c) unex

SUBMITTER: Jiao K 

PROVIDER: S-EPMC9553204 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature