FV 113. Electrophysiological Diagnostic of Neuromuscular Diseases in Newborns, Infants, and Toddlers

Background: Recognizing neuromuscular disease in newborns, infants, and toddlers is even for the experienced neuropediatrician a challenging task. Many neuromuscular diseases in the beginning present only with very minor symptoms; other cases are quite severe, that is, generalized muscular hypotonia requiring mechanical ventilation and making a proper clinical assessment difficult. However, early treatment of neuromuscular conditions can alter the prognosis significantly. Therefore, precise diagnosis is important.

Methods: The children’s hospital of Eastern Switzerland has become a major center for neurophysiological diagnostic in children. We have established a work-up to precisely assess the neuromuscular system in newborns and toddlers. Our assessment protocol starts with the basic study of sensory and motor nerves and typically an EMG of the muscular tibialis anterior. Depending on the results of the basic study, the examination is extended based on the clinical picture. In the case of a Floppy infant with a suspicion of a myasthenia, a single fiber EMG is conducted typically at one of the muscles innervated by the cranial nerves. If an asymmetrical weakness is present, the examination focuses on the affected muscle and its contralateral counterpart.

Results: Based on this assessment protocol, we can diagnose a significant number of neuromuscular diseases. In this presentation, we will show examples of how spinal muscular atrophy can be diagnosed early by recording pathological discharges during wake and sleep, how a congenital myasthenic syndrome can be diagnosed by single fiber EMG techniques, and how especially in clinical apparent myotonia, an examination of the mother can show myotonic discharges and lead to the diagnosis of myotonic dystrophy in the child.

Conclusion: We conclude our presentation with an outlook of the current developments in pediatric electroneuromyography and especially focus on latest developments in the application of single fiber EMG techniques in the pediatric population.