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Nerve Ultrasound Protocol to Detect Dysimmune Neuropathies
Published on: October 7, 2021
A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia
Ahmed K Bamaga1, Anas S Alyazidi1,2, Feryal K Alali2
1Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Abstract:
Inherited neuropathies are a heterogeneous group of disorders that affect the peripheral nervous system, leading to motor, sensory, and autonomic dysfunction. These disorders are classified into various subgroups, including hereditary sensory and motor neuropathies, distal hereditary motor neuropathies, hereditary sensory and autonomic neuropathies, and more complex forms. Advances in genetic testing, particularly next-generation sequencing (NGS), have significantly improved the identification of these disorders. Emerging therapies, such as gene therapy, small molecule therapies, and antisense oligonucleotides, offer promising treatment options. However, current treatments remain limited, and their clinical benefits in humans are not yet fully established. This review provides a comprehensive overview of recent developments and evolving therapeutic options for hereditary neuropathies, focusing on gene therapy, small molecule therapies, and antisense oligonucleotides. It also highlights the current state of inherited neuropathies in Saudi Arabia, emphasizing the need for national guidelines, patient registries, and collaborative research efforts. By integrating advanced genomic technologies and fostering international collaboration, we can improve the diagnosis, management, and treatment outcomes for patients with inherited neuropathies.
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