The term ‘neuromuscular diseases’ defines disorders of the extended motor unit. Newborns with disorders of peripheral nervous system (motor neurons, nerve roots, plexuses, peripheral nerves, neuromuscular junction, and skeletal muscles) present most frequently with hypotonia, weakness, contractures, respiratory and feeding difficulties. Since these findings may also occur with more common central causes, and/or newborns with peripheral nervous system involvement can also be prone to hypoxic-ischemic insults, approach and diagnosis can be challenging. Genetic counseling, individualized treatment strategies, standards of care require accurate diagnosis, and neuromuscular field is moving to screening programs and pre-symptomatic diagnosis with promising disease-modifying treatments.
The aim of this webinar is to discuss approach to neuromuscular diseases within the newborn period with selected case presentations in combination with clinical history, examination findings, and selected diagnostic tests, varying from traditional basic laboratory investigations to advanced molecular diagnostics.