Association of Diaphragm Involvement Assessed by Ultrasound With Disease Severity in Facioscapulohumeral Muscular Dystrophy.

ABSTRACT:

Background

Respiratory involvement is a comorbidity that should not be overlooked in clinical practice in facioscapulohumeral muscular dystrophy type 1 (FSHD1), with a reported association for severe disease outcomes such as wheelchair dependency. However, patients with FSHD1 can have inaccurate ventilatory function assessment results, owing to facial muscle involvement. Additionally, the association between diaphragm involvement and disease severity in FSHD1 patients remains uncertain. This study aims to assess diaphragm involvement using ultrasound technology and to assess potential associations of diaphragm involvement with respiratory involvement and disease severity.

Methods

This prospective, observational, case-control study enrolled genetically confirmed FSHD1 patient

SUBMITTER: Xu X 

PROVIDER: S-EPMC12426622 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature