INTRODUCTION: Magnetic resonance imaging of muscle shows short tau-inversion recovery (STIR) brightness in autosomal dominant facioscapulohumeral muscular dystrophy (FSHD1) suggestive of active inflammation/injury. We measured the longitudinal stability/progression of this potential disease biomarker. METHODS: Nine subjects underwent calf MRI imaging over 2 years. Two radiologists evaluated qualitative muscle changes. RESULTS: In 3/9 subjects, calf muscles demonstrated moderate/severe STIR hyperintensity at Time 1 that had progressed to fatty replacement 2 years later (Time 2). In the remaining subjects, moderate/severe muscle STIR abnormalities, when present, were consistent between exams. Mild STIR+ elevations had roughly similar patterns between exams. CONCLUSIONS: Moderate/severe STIR hyperintensities often foreshadow fatty replacement over a 2-year interval. Whether longer time courses are required to observe muscle degeneration and fatty replacement in some subjects remains to be explored.
INTRODUCTION: Magnetic resonance imaging of muscle shows short tau-inversion recovery (STIR) brightness in autosomal dominant facioscapulohumeral muscular dystrophy (FSHD1) suggestive of active inflammation/injury. We measured the longitudinal stability/progression of this potential disease biomarker. METHODS: Nine subjects underwent calf MRI imaging over 2 years. Two radiologists evaluated qualitative muscle changes. RESULTS: In 3/9 subjects, calf muscles demonstrated moderate/severe STIR hyperintensity at Time 1 that had progressed to fatty replacement 2 years later (Time 2). In the remaining subjects, moderate/severe muscle STIR abnormalities, when present, were consistent between exams. Mild STIR+ elevations had roughly similar patterns between exams. CONCLUSIONS: Moderate/severe STIR hyperintensities often foreshadow fatty replacement over a 2-year interval. Whether longer time courses are required to observe muscle degeneration and fatty replacement in some subjects remains to be explored.
Authors: Zizhen Yao; Lauren Snider; Judit Balog; Richard J L F Lemmers; Silvère M Van Der Maarel; Rabi Tawil; Stephen J Tapscott Journal: Hum Mol Genet Date: 2014-05-26 Impact factor: 6.150
Authors: Pierre G Carlier; Benjamin Marty; Olivier Scheidegger; Paulo Loureiro de Sousa; Pierre-Yves Baudin; Eduard Snezhko; Dmitry Vlodavets Journal: J Neuromuscul Dis Date: 2016-03-03
Authors: Harmen Reyngoudt; Benjamin Marty; Ericky Caldas de Almeida Araújo; Pierre-Yves Baudin; Julien Le Louër; Jean-Marc Boisserie; Anthony Béhin; Laurent Servais; Teresa Gidaro; Pierre G Carlier Journal: Quant Imaging Med Surg Date: 2020-07
Authors: Amy E Campbell; Andrea E Belleville; Rebecca Resnick; Sean C Shadle; Stephen J Tapscott Journal: Hum Mol Genet Date: 2018-08-01 Impact factor: 6.150