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Pompe's DiseaseElectromyographic, Electron Microscopic, and Cardiovascular Aspects
Joseph M. Bordiuk, MD;
Marianne J. Legato, MD;
Robert E. Lovelace, MD;
Sidney Blumenthal, MD
Arch Neurol. 1970;23(2):113-119.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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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
. . . [Full Text PDF of this Article]
Author Affiliations
New York
From the departments of pediatrics (Drs. Bordiuk, Legato, and Blumenthal) and neurology (Dr. Lovelace) (the Neurological Clinical Research Center), College of Physicians and Surgeons, Columbia University, and the Department of Medicine, Roosevelt Hospital, New York.
Footnotes
Submitted for publication Dec 17, 1969; accepted Jan 12, 1970.
Reprint requests to The Neurological Institute, 710 W 168th St, New York 10032 (Dr. Lovelace).
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