Update on Pediatric NMJ Disorders-Dr. Ginsberg Presentation

Dr. Ginsberg Presentation

Pdf Summary

This document outlines the management strategies for pediatric neuromuscular junction (NMJ) disorders, specifically focusing on juvenile myasthenia gravis (JMG) and congenital myasthenic syndromes (CMS). Dr. Matt Ginsberg discusses various aspects of JMG treatment, emphasizing pediatric-specific considerations such as side effect profiles, adherence challenges, and limited clinical trial data. The document presents a case study of a 13-year-old girl with JMG, detailing her treatment journey starting with pyridostigmine, through interventions like IVIG, prednisone, rituximab, and eventually thymectomy, with discussions on the efficacy and progression of treatments.<br /><br />For CMS, different treatment perspectives are addressed, including structural regulators and medications like amifampridine, fluoxetine, and albuterol. Specific genetic mutations and their treatment responses are highlighted, illustrated by detailed case studies of young patients with varied clinical presentations.<br /><br />Key treatment strategies for JMG include pyridostigmine and alpha-1 agonists for mild symptoms, IVIG and plasmapheresis for immunomodulatory effects, and early consideration of thymectomy and rituximab. For CMS, therapies such as fluoxetine for slow channel syndromes, albuterol for specific gene mutations, and pyridostigmine for other forms are discussed, along with the potential use of amifampridine as adjunctive therapy.<br /><br />The document also touches on the importance of supportive care, addressing issues like medication avoidance, weight management, and the social and emotional impacts of these disorders. The text concludes with information on providing feedback through the AANEM app and instructions for claiming continuing medical education credits associated with the session.

Keywords

pediatric neuromuscular junction disorders

juvenile myasthenia gravis

congenital myasthenic syndromes

treatment strategies

pyridostigmine

IVIG

rituximab

thymectomy

genetic mutations

supportive care