Background: The aim of this study was to compare the electromyographic pattern in Becker muscular dystrophy (BMD) with that found in Duchenne muscular dystrophy (DMD).
Material And Method: Fourteen men with BMD and 51 boys with DMD were investigated. Proximal muscles were examined: m. biceps brachii (BB) and m. rectus femoris (RF). They were divided according to the clinical criteria in two groups: of those with slight changes (group AB) and of those with severe abnormalities (CD). As in the Part I of the paper our own method of Functional-QEMG was applied in the CNEMG examination.
Results And Conclusions: Spontaneous activity (fibrillations, complex repetitive discharges) was equally frequent in BMD and DMD. Linked potentials were rather frequent in either group. Myopathic features such as MUAPs low amplitude and area, polyphasic shape were seen in either condition, but more marked in DMD than in BMD. Evaluation of IP recordings revealed that IP amplitude (amplitude size) is low in DMD already at the early stage of lesion but normal or only slightly diminished in BMD. It might perhaps suggest different degrees of lesion in type II MUs between the compared types of muscular dystrophy.
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FEBS J
January 2025
Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.
Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern.
View Article and Find Full Text PDFCardiovasc Intervent Radiol
January 2025
Clínical Area of Medical Imaging and Biomedical Imaging Research Group (GIBI230), Hospital Universitario y Politécnico La Fe - Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
Pediatric pain management presents unique challenges due to the intrinsic characteristics of children such as their developmental stages, communication barriers, and varying pain perceptions. Life-limiting conditions affecting children are a growing medical concern, requiring a comprehensive, multidisciplinary approach to improve quality of life or ensure a dignified end of life. Interventional radiology (IR) plays a critical role in this strategy, similar to its role in adult care.
View Article and Find Full Text PDFCleft Palate Craniofac J
January 2025
State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Objective: Apart from rupture and displacement of muscle fibers, structural defects exist in cleft muscles but have not been adequately investigated. This study aimed to examine the histological and molecular features of the cleft muscles.
Design: Orbicularis oris (OO) and tensor fasciae latae (TFL) muscle samples were obtained from patients with cleft lip and alveolar.
Hum Gene Ther
January 2025
BridgeBio Gene Therapy, Palo Alto, California, USA.
Complement-mediated thrombotic microangiopathy (TMA) in the form of atypical hemolytic uremic syndrome (aHUS) has emerged as an immune complication of systemic adeno-associated virus (AAV) gene transfer that was unforeseen based on nonclinical studies. Understanding this phenomenon in the clinical setting has been limited by incomplete data and a lack of uniform diagnostic and reporting criteria. While apparently rare based on available information, AAV-associated TMA/aHUS can pose a substantial risk to patients including one published fatality.
View Article and Find Full Text PDFClin Neurophysiol Pract
December 2024
Department of Neurology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido, Japan.
Objective: The staircase phenomenon, which refers to the increases in the force of contraction with repetitive stimulation of the muscle, has been studied for many years, but the method is difficult and not widely used. Our objective was to evaluate the staircase phenomenon in skeletal muscle using a piezoelectric sensor.
Methods: Thirty-five subjects without neuromuscular diseases (normal controls), 11 patients with Becker muscular dystrophy (BMD), and 19 patients with myotonic dystrophy type 1 (MyD) were studied.
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