Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD), one of the most common muscular dystrophies in adulthood, is heterogeneous in its presentation and progression of muscle weakness. FSHD type 1 is due to a contraction of the D4Z4 repeats at the 4q35 chromosome. The disease manifestations are variable and mostly slow in progression, necessitating the identification and validation of measures that can inform treatment efficacy over a time period that is feasible for the conduct of a clinical trial. An imaging biomarker is important because it can provide an objective endpoint not subject to the learning effect that can affect ambulatory functional outcome measures [1].

Source: Neuromuscular Disorders - June 21, 2023 Category: Neurology Authors: Leo H. Wang, Doris G. Leung, Kathryn R. Wagner, Sarah J. Lowry, Michael P. McDermott, Katy Eichinger, Kiley Higgs, Michaela Walker, Leann Lewis, William B. Martens, Karlien Mul, Valeria A. Sansone, Perry Shieh, Bakri Elsheikh, Samantha LoRusso, Russell J. Source Type: research