13th Edition of International Conference on Neurology and Brain Disorders
October 19-21, 2026
Congenital Myopathies
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.
Ken Ware
NeuroPhysics Therapy Institute and Research Centre, Australia
Yong Xiao Wang
Albany Medical College, United States
Joe Sam Robinson
Mercer University, United States
Daniel Curry
Texas Children’s Hospital, United States
Steven Benvenisti
Davis, Saperstein Salomon, PC, United States
Andrzej Stanislaw Cieplak
Independent researcher, United States
Younok Dumortier Shin
OnusBio, United StatesSubmit your abstract Today
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George Diaz, Memorial Healthcare Systems, United States
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Title : Beyond plaques: 10-nanometer-scale pathoconnectomics of Alzheimer’s disease
Ons M Saad, Panluminate Inc., United States
Title : Results from the global phase 3 trial (IB1001-303) evaluating levacetylleucine in children and adults with ataxia-telangiectasia
Chidinma Ejim, IntraBio, United States
Title : A phase 3, multinational, randomized, placebo-controlled, double-blind, crossover trial (IB1001-304) evaluating levacetylleucine in CACNA1A
Chidinma Ejim, IntraBio, United States
Title : Clinical and molecular phenotype of PTRHD1-associated juvenile parkinsonism
Bhavan A Modi, Barrow Neurological Institute at Phoenix Children's, United States