Clinical aspects of diagnosis of Pompe disease with late debut (clinical case)
Abstract
Pompes disease (glycogenosis type II) is a rare disease with autosomal recessive inheritance, classified as lysosomal storage disorder. It characterized by limb-girdle and trunk muscle weakness, cardiomyopathy, respiratory failure, hepatomegaly. The article describes the clinical case of late-onset Pompe s disease, a feature of which was pronounced respiratory disorders.
About the Authors
L. I. Volkova
Ural State Medical University
Russian Federation
Russian Federation
O. V. Tsyganenko
Ural State Medical University; Sverdlovsk Regional Clinical Hospital No. 1
Russian Federation
Russian Federation
References
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Review
For citations:
Volkova L.I., Tsyganenko O.V. Clinical aspects of diagnosis of Pompe disease with late debut (clinical case). Medical alphabet. 2018;1(11):32-34. (In Russ.)
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