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August 1970

Pompe's Disease: Electromyographic, Electron Microscopic, and Cardiovascular Aspects

Arch Neurol. 1970;23(2):113-119. doi:10.1001/archneur.1970.00480260019003

GENERALIZED glycogen storage disease (Pompe's disease or type II glycogenosis) is a fatal disease characterized during life by marked generalized muscular hypotonia, plus central nervous system and myocardial dysfunction. The disease process is due to, or at least associated with an absence of alpha 1-4 glucosidase (acid maltase), apparently inherited as an autosomal recessive gene.1,2 No effective therapy has been devised, although attempts have been made to administer acid maltase to affected infants.3 This paper presents electromyographic, electron microscopic, and cardiovascular data from one patient with generalized glycogenosis. Electromyographic changes in an appropriate clinical setting are strongly suggestive of this disease.

Report of a Case  The patient was an adopted white male child whose family history was unknown. He appeared to be a normal infant until age 31/2 months, at which time he began to feed poorly. A chest roentgenogram obtained at this time

Fig 1.—  Electromyographic findings