This report describes a case of Becker muscular dystrophy presenting with recurrent symptomatic wide complex tachycardia. Electrophysiologic testing demonstrated the mechanism to be bundle branch reentry ventricular tachycardia. It is important to consider this potential mechanism in patients with ventricular arrhythmias who have this particular clinical entity, since radiofrequency catheter ablation can represent a curative treatment.
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| http://dx.doi.org/10.1111/j.1540-8167.1998.tb00949.x | DOI Listing |
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Label-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins.
Sci Rep
January 2025
Graduate Course in Medicine (Pathological Anatomy), Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Muscular dystrophies (MD) are a group of hereditary diseases marked by progressive muscle loss, leading to weakness and degeneration of skeletal muscles. These conditions often result from structural defects in the Dystrophin-Glycoprotein Complex (DGC), as seen in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Since MDs currently have no cure, research has focused on identifying potential therapeutic targets to improve patients' quality of life.
View Article and Find Full Text PDFAI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.
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Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
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Methods: By analyzing the model's performance in identifying relevant clinical features, suggesting differential diagnoses, and providing insights into possible genetic testing, this research seeks to determine whether these AI tools could serve as a valuable adjunct in neurogenetic assessments.
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns. The co-occurrence of both conditions within the same family is rare. In this case report, the proband was a 10 year-old boy who presented with eye and mouth orbicular muscles, shoulder and proximal upper and lower limbs weakness.
View Article and Find Full Text PDFA new method to evaluate staircase phenomenon in skeletal muscle using piezoelectric sensor.
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Department of Neurology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido, Japan.
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Navigating adulthood: Exploring the transition needs of adolescents and young adults affected by Duchenne or Becker muscular dystrophy.
PLoS One
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Little Steps Association for Children with Duchenne Muscular Dystrophy and Becker Muscular Dystrophy, Kefar Saba, Israel.
For individuals with Duchenne or Becker muscular dystrophy (DMD and BMD, respectively), transitioning to adulthood presents significant challenges. Although considerable attention has been given to facilitating medical transitions due to the complexity of these conditions, less focus has been placed on other aspects of the transition, such as achieving independence. This study assessed the transition needs of people with DMD or BMD, exploring various domains including health, education, employment, living arrangements, transportation, daily activities, and independent personal life.
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