Study of Diaphragmatic Ultrasound and Lung Function in Adults with Facioscapulohumeral Muscular Dystrophy FSHD Over One Year

What this Trial Is About

Researchers are investigating respiratory function in adults with facioscapulohumeral muscular dystrophy FSHD, a condition that affects muscles including those used for breathing. This study aims to understand how respiratory function changes over one year using diaphragmatic ultrasound and pulmonary function tests. It will also compare the accuracy of ultrasound in detecting breathing problems and explore how these measurements relate to clinical and genetic data in FSHD patients. Participants with genetically confirmed FSHD will undergo assessments including diaphragmatic ultrasound to measure diaphragm thickness, contractility, and movement in different positions. Pulmonary function tests like spirometry, body plethysmography, maximal inspiratory and expiratory pressures, and overnight oxygen monitoring will be done at the start and after 12 months. This longitudinal study seeks to provide new insights into respiratory changes in FSHD. During the study, each participant will have a detailed neurological exam as well as breathing tests at baseline and one year later. Researchers will track changes in diaphragm structure and function through ultrasound and compare these with standard lung function results. The study aims to establish ultrasound as a useful tool for monitoring respiratory health in FSHD, potentially aiding early detection of breathing difficulties and guiding clinical care. Total participation lasts one year from initial to follow-up assessment.

Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients