Ghosh, Partha S.

ABSTRACTIntroductionUltrasound is increasingly used as an adjunct in the diagnosis of neuromuscular disease by measuring muscle thickness and echointensity (EI). Reproducibility is limited because of variations in scanning technique and proprietary algorithms that alter EI values.MethodsWe developed a standardized scanning protocol and a portable machine without any postimaging processing. Ten subjects underwent scanning of 6 muscles by 3 sonographers on 2 separate days. One of the sonographers repeated the protocol with 4 different machine/transducer combinations. Gray‐scale values were measured from each image with the use of a region of interest (ROI) box.ResultsCombined intraclass correlation coefficients were 0.92 (intra‐rater), 0.88 (inter‐rater), and 0.96 (inter‐system). The biceps had the highest variability (coefficient of variance [COV] 12.7%), and the medial gastrocnemius had the lowest variability (COV 7.4%).ConclusionsWe demonstrate excellent reliability of a reproducible ultrasound system for gray‐scale analysis of muscle that has potential applicability as a screening tool for neuromuscular disease. Muscle Nerve 56: 408–412, 2017

ABSTRACTIntroduction: Camptocormia is the involuntary flexion of the thoracolumbar spine leading to an abnormal posture. Methods: We retrospectively identified patients with myopathy who manifested with camptocormia and were seen in our neuromuscular clinic. The diagnosis of myopathy was based on myopathic electromyographic changes, often accompanied by 1 or more of the following: elevated creatine kinase (CK); myopathic histopathological findings; and genetic confirmation. Results: Fifty‐two patients were identified; 35 had symptoms limited to camptocormia, but were found to have additional weakness of facial (8 patients), neck (11 patients), and limb muscles (17 patients). CK values were normal or mildly to moderately elevated. MRI/CT of the spine showed paraspinal muscle atrophy and fat replacement. Facioscapulohumeral muscular dystrophy and sporadic inclusion body myositis were the most commonly identified myopathies in this cohort. Conclusions: Despite the difficulty in characterizing the myopathy in patients with camptocormia, a definitive diagnosis was possible in 54% of cases. The pattern of associated extra‐axial weakness may provide clues to the diagnosis. Muscle Nerve 52: 1008–1012, 2015

We retrospectively reviewed 2030 childhood electromyograms performed over an 11-year period (2004-2014). Twenty children (1%) with myotonic discharges were identified and placed into 2 groups. Group A (electrical and clinical myotonia) comprised 9 children (8 with myotonia congenita and 1 with paramyotonia congenita); all of them had diffuse myotonic discharges without clinical weakness or elevated creatine kinase. Group B (electrical myotonia without clinical myotonia) comprised 11 children (4 with inflammatory myopathy; 3, congenital myopathy, 3, muscular dystrophy; and 1, congenital muscular dystrophy). Clinical weakness was demonstrated in all of them and elevated creatine kinase in 6; all had a myopathic electromyogram and scattered myotonic discharges. We conclude that myotonic discharges are a rare but characteristic spontaneous discharge identified during electrodiagnostic studies in children. The presence of electrical and clinical myotonia provides helpful clues to differentiate between various muscle disorders in children.