Congenital myopathies are a rare group of genetic neuromuscular diseases that are present at birth. In most cases, the cause is unknown. Symptoms typically include muscle weakness, stiffness, and joint contractures, as well as hypotonia, which can cause developmental delays. Other common features may include scoliosis, respiratory problems, swallowing difficulties, and cardiac issues. Diagnosis is often challenging as there are currently no laboratory tests or tools that can pinpoint congenital myopathies. Diagnosis often requires a combination of examinations, including physical, neurological, and musculoskeletal evaluations, as well as electrodiagnostic tests, medical imaging, and a muscle biopsy. Treatment for congenital myopathies is focused on managing symptoms and improving quality of life. It may involve physical therapy, occupational therapy, assistive devices, medications, and surgery, depending on the individual’s needs. As there is no cure, treatment plans focus on management and prevention of further complications. Although often rare, congenital myopathies can be life-threatening. Early and accurate diagnosis is critical for providing the best care possible. Fortunately, research such as whole-exome sequencing is making it possible to diagnose these conditions faster and with more accuracy. With improved diagnosis and treatment options, the quality of life for people living with congenital myopathies is improving.
Title : Narrative medicine: A communication therapy for the communication disorder of Functional Seizures (FS) [also known as Psychogenic Non-Epileptic Seizures (PNES)]
Robert B Slocum, University of Kentucky HealthCare, United States
Title : Atypical presentation of Juvenile myoclonic epilepsy in a 16-year-old female: A case report
George Diaz, Memorial Healthcare Systems, United States
Title : Triple-network dysfunction, ME/CFS, and the NeuroPhysics Treatment Process “A dynamical systems perspective on psychophysical organization and environmental interaction”
Ken Ware, NeuroPhysics Therapy Institute and Research Centre, Australia
Title : In silico in vitro and in vivo study of geraniol role in Alzheimer's disease
Bhuvanesh Baniya, Mohanlal Sukhadia University, India
Title : Prince transform: a wave-mechanical framework for real-time EEG analysis and early seizure prediction using chirp and drift detection
Mustafa A Khan, Sevaro Health Inc., United States
Title : Gut-brain axis in autism spectrum disorder: MicroRNAs as a critical mediator of pathogenesis
Rahem Rahmati, Shahrekord University of Medical Sciences, Iran (Islamic Republic of)