Can Ozlu, Martha Finch, Bridget McGowan, Abigail Schwaede, Gyula Acsadi, Nancy L Kuntz
Neuromuscular junction disorders in children present with fatigable weakness and encompass genetic, autoimmune, and toxin-mediated subtypes. Timely and correct diagnosis is crucial as many subtypes respond to specific treatments. Congenital myasthenic syndromes may show therapeutic responses to targeted medications, but they can be misdiagnosed as congenital myopathy, neuropathy, or muscular dystrophy. Furthermore, the treatment landscape for autoimmune myasthenia gravis is rapidly expanding with complement inhibitors and neonatal fragment crystallizable receptor antagonists. In this review, we provide a framework for the clinical and electrodiagnostic approach to suspected neuromuscular junction disorders in children and summarize key findings and management strategies by subtype.