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– 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

Myasthenia Gravis

Myasthenia Gravis

Thank You