Two children, now 5 1 2 and 6 years of age, presented as neonates with hypotonia, multiple
joint contractures, ptosis, extraocular weakness, bulbar symptoms, and respiratory distress.
Fluctuations and episodic exacerbations of weakness necessitated respiratory support. Both
children are developmentally delayed and cannot walk independently, although one child
underwent bilateral tenotomies. Biochemical investigations and electromyography, including
slow-rate, repetitive nerve stimulation, were normal. Acetylcholine receptor antibodies in …