Facioscapulohumeral muscular dystrophy (FSHD), an inherited and progressive muscle disorder, is among the most common hereditary muscle disorders. From a clinical vantage point, FSHD is characterized by weakness of the facial, shoulder (often with scapular winging), arm (including biceps and triceps) and abdominal muscles. Forearm muscles are usually spared and weakness is usually asymmetrical. Over the past few decades, muscle magnetic resonance imaging (MRI) has become established as a reliable and accurate noninvasive tool for the diagnosis and assessment of progression in neuromuscular diseases, showing specific patterns of muscle involvement for a number of myopathies. More recently, MRI has been used to noninvasively identify quantitative biomarkers, allowing evaluation of the natural progression of disease and assessment of therapeutic interventions. In the present review, the intention was to present the most significant MRI developments related to diagnosis and pattern recognition in FSHD and to discuss its capacity to provide outcome measures.
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http://dx.doi.org/10.1016/j.neurol.2016.08.002 | DOI Listing |
J Neurol Sci
January 2025
Sorbonne Université, Assistance Publique - Hôpitaux de Paris, Inserm U974, Department of Internal Medicine and Clinical Immunology, Pitié-Salpêtrière University Hospital, Paris, France. Electronic address:
Introduction: Certain types of muscular dystrophy (MD), notably facioscapulohumeral muscular dystrophy (FSHD), exhibit muscle fiber necrosis with regeneration and a nonspecific inflammatory process. Although rare, the coexistence of MDs and autoimmune myositis has been observed. We hypothesized that, in some circumstances, FSHD may predispose individuals to myositis through muscle damage-induced autoantigen overexpression, contributing to an autoimmune response.
View Article and Find Full Text PDFFacioscapulohumeral muscular dystrophy (FSHD) is a potentially devastating muscle disease caused by de-repression of the toxic gene in skeletal muscle. FSHD patients may benefit from inhibition therapies, and although several experimental strategies to reduce levels in skeletal muscle are being developed, no approved disease modifying therapies currently exist. We developed a CRISPR-Cas13b system that cleaves mRNA and reduces DUX4 protein level, protects cells from DUX4-mediated death, and reduces FSHD-associated biomarkers .
View Article and Find Full Text PDFBackground And Aims: Body composition parameters associated with aerobic fitness, mirrored by maximal oxygen consumption (V̇Omax), have recently gained interest as indicators of physical efficiency in facioscapulohumeral dystrophy (FSHD). Bioimpedance analysis (BIA) allows a noninvasive and repeatable estimate of body composition but is based on the use of predictive equations which, if used in cohorts with different characteristics from those for which the equation was originally formulated, could give biased results. Instead, the phase angle (PhA), a BIA raw bioelectrical parameter reflecting body fluids distribution, could provide reliable data for such analysis.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Programa de Comunicación Celular en Cáncer, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7550000, Chile.
DUX4 is typically a repressed transcription factor, but its aberrant activation in Facioscapulohumeral Muscular Dystrophy (FSHD) leads to cell death by disrupting muscle homeostasis. This disruption affects crucial processes such as myogenesis, sarcolemma integrity, gene regulation, oxidative stress, immune response, and many other biological pathways. Notably, these disrupted processes have been associated, in other pathological contexts, with the presence of connexin (Cx) hemichannels-transmembrane structures that mediate communication between the intracellular and extracellular environments.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
Peripheral Nervous System & Muscle Department, Pasteur 2 Hospital, Nice University Hospital, Nice, France.
Facioscapulohumeral dystrophy type 1 (FSHD1) displays prominent intra- and interfamilial variability, which complicates the phenotype-genotype correlation. In this retrospective study, we investigated FSHD1 patients classified as category D according to the Comprehensive Clinical Evaluation Form (CCEF), a category defined by FSHD patients showing uncommon clinical features, to identify genetic causes explaining these uncommon phenotypes. Demographics, clinical data and clinical scales of FSHD1 patients were retrospectively evaluated.
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