CHRISTOPHER G.GOETZMDFrom St Christopher's Hospital for Children, Philadelphia, Pa.
Over the past 25 years, the widespread application of genetic and biochemical techniques has revolutionized the way physicians, particularly neurologists, characterize and even name diseases. Pompe's disease, or glycogen storage disease type II, provides an excellent illustration of how an understanding of the molecular basis of a disease alters fundamental elements of clinical nosology and therapy.
In Amsterdam in 1932 and 1933, Pompe1,2 published descriptions in German and French of a 7-month-old girl who had fallen ill 10 days prior to her admission to the hospital. She deteriorated rapidly over 3 days and died from what was initially thought to be pneumonia.
Melvin JJ. Pompe's Disease. Arch Neurol. 2000;57(1):134–135. doi:10.1001/archneur.57.1.134
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