Congenital myasthenic syndromes and myasthenia gravis are challenging diagnoses in neurological practice

Use of stimulated electromyography in the analysis of the neuromuscular junction in children

“…The myasthenic conditions in childhood encompass congenital myasthenic syndromes (CMS) due to genetic defects of the proteins of the neuromuscular junction (NMJ) and autoimmune myasthenia gravis (AIMG). They often are difficult to diagnose [1][2][3][4] because of their variable clinical presentations, including not only ptosis and fatiguability but also stridor, 5 localized or generalized arthrogryposis, 6,7 episodic apnea, 8,9 and the floppy infant. Most genetic forms will have symptoms at birth, although the diagnosis may be delayed many years.…”