Martes 15 de enero 2019, 1:30 PM, Teatro INN
Ponente: Professor Benn Smith, de la clínica Mayo, USA.
Médico, neurólogo, experto en neurofisiología.
Título: “Advances in Inherited Neuromuscular Junction Disease and Other Peripheral Channelopathies”
Avances en enfermedades congénitas de la unión neuromuscular y otras canalopatías periféricas
Resumen
“Channelopathies are disorders of voltage- or ligand-gated ion channels or the proteins that regulate them. In years past it was thought that a dysfunctional ion channel would likely be incompatible with life. In the last several decades, however, many genetic channelopathies have been described while others have been found to be caused by autoimmune or other conditions. In neurology a broad range of channelopathies are considered prototypes for paroxysmal disorders of brain, nerve, muscle and neuromuscular junction. These include epileptic syndromes, episodic ataxias, familial hemiplegic migraine, pain syndromes, small fiber neuropathies, non-dystrophic myotonias, periodic paralyses, and both autoimmune and congenital myasthenic syndromes. This overview will focus on selected channelopathies including recognition of clinical presentations, electrophysiologic findings, diagnostic techniques, molecular abnormalities leading to particular phenotypes and treatment strategies for specific channelopathies.”
