C228 - Peripheral Neuropathy III: Genetic Neuropathies: Molecular Diagnosis and Treatment Perspectives

Event Time: Thursday May 9, 2019 3:30 pm to 5:30 pm
Topic(s): Neuromuscular and Clinical Neurophysiology (EMG)
Director(s): Mario Saporta MD, PhD, FAAN
Description: Advances in molecular genetics have greatly impacted the practice of clinicians dealing with inherited neuromuscular conditions. Over 100 distinct genes have been associated with inherited neuropathies (Charcot-Marie-Tooth disease), the most common genetic neuromuscular condition, making the diagnostic work up of patients with CMT increasingly challenging. Through presentations reviewing basic concepts of inherited neuropathies and strategies to order and interpret genetic testing, faculty will facilitate a discussion with the audience of differential diagnosis and laboratory evaluation of CMT. An overview and update on therapy development for CMT will complete the session. This program complements Peripheral Neuropathy I: Anatomical Basis and Acquired Demyelinating Neuropathies and Peripheral Neuropathy II: Update on Diabetic, Immune Axonal, and Hematologic-related Neuropathies, but covers independent topics.
Completion Message: Participants should become familiar with the diagnostic work-up, including genetic testing, of inherited peripheral neuropathies and receive an update on new breakthroughs in therapy development in the field.
CME Credits: 2
Core Competencies: Patient Care, Medical Knowledge

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