Validity of Skeletal Muscle Ultrasound in Assessment of Suspected Limb-Girdle Muscular Dystrophy Patients

Abstract

ver sixty years ago John Walton and Frederick Nattrass defined LGMD as a separate entity from the X-linked dystrophinopathies. Over the last few years, new and interesting studies have been published on LGMD. New LGMD genes have been discovered and the clinical and genetic heterogeneity in this group of muscular dystrophies has been further enlarged by the description of new forms of LGMD. Despite this clinical and technological progress, the diagnosis of LGMD subtypes remains challenging due to clinical phenotypes as well as genetic defect variability besides, the low specificity of investigating tools and complex approaches of molecular genetics (Quijano-Roy et al., 2012). Neuromuscular imaging can be a helpful tool in LGMD subtypes diagnosis as muscle imaging value is increasingly established in the diagnosis of MDs (Weber et al., 2018). It was found that the value of neuromuscular imaging in LGMD starts with the identification of pattern and degree of muscle involvement, which can limit differential diagnoses and aid clinical diagnosis, (Ortolan et al., 2015) followed by monitoring treatment and disease progression (Fischer et al., 2016). Over the last two decades, ultrasound has developed into a useful technology for the evaluation of diseases of nerve and muscle. The use of musculoskeletal ultrasound continues to grow and there are several factors that impact MRI. The development of less expensive portable ultrasound machines