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Brains & Gains 2013. Nicholas J. Silvestri , M.D. Neuromuscular Disorders. Nerve Muscle Nerve-Muscle Junction. Human Nerve. Nerve. Neuropathy = Nerve Damage. 2 major types of neuropathy Axonal: “wire damage” Demyelinating: “insulation damage ” Another way to group neuropathy Acquired
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Brains & Gains 2013 Nicholas J. Silvestri, M.D.
Neuromuscular Disorders • Nerve • Muscle • Nerve-Muscle Junction
Neuropathy = Nerve Damage • 2 major types of neuropathy • Axonal: “wire damage” • Demyelinating: “insulation damage” • Another way to group neuropathy • Acquired • Inherited
Acquired Neuropathy • Guillain-Barré syndrome • Rapid onset • Post-infection or vaccination • Demyelinating • Weakness, numbness, pain, breathing difficulty
International, multi-center collaboration • Observational study • Looking at demographic factors, preceding infections, genetic factors, antibodies and other mediators, and clinical and electrophysiological characteristics of patients presenting within 2 weeks of onset
Inherited Neuropathy • Charcot-Marie-Tooth disease
Charcot Marie Tooth Disease • Very basic science • Hunter James Kelly Research Institute • Looking at problems with genes and their proteins that lead to abnormal myelin • Mouse models
Vitamin D • Diabetic neuropathy • Muscle disease caused by “statins” • Lou Gehrig’s disease
