| Main clinical features
|
resulting from a defect in the neuromuscular junction
generalized muscle weakness, exercise intolerance, and respiratory insufficiency
hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable
facial dysmorphism including micrognatia, low-set ears, and a high-arched palate, in addition to skeletal abnormalities such as pectus carinatum and marked bilateral pes cavus; no response to treatment with pyridostigmine |