Lack of vigilance is the main factor of late diagnosis of glycogen storage disease type II in the Republic of Kazakhstan
https://doi.org/10.17650/2222-8721-2018-8-1-53-58
Abstract
Pompe disease is a hereditary autosomal recessive disease characterized by accumulation of glycogen due to decreased activity of acid α-glucosidase enzyme in lysosomes. The disease can develop at any age. Cases with onset after the 1st year of life are attributed to late-onset Pompe disease (LOPD). LOPD has a very wide age range when clinical manifestations appear which significantly complicates diagnosis in adults. A case of verified Pompe disease in the Republic of Kazakhstan is presented. A chronology of clinical manifestations and symptoms, results of paraclinical examinations helping to suspect LOPD and verify the diagnosis by decreased activity of acid α-glucosidase in dry blood spot are described.
About the Authors
L. A. Kuzina
League of Neurologists – Scientific and Practical Center Smagul Kaishibayev Institute of Neurology
Kazakhstan
Kazakhstan
G. S. Kaishibayeva
League of Neurologists – Scientific and Practical Center Smagul Kaishibayev Institute of Neurology
Kazakhstan
Kazakhstan
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Review
For citations:
Kuzina L.A., Kaishibayeva G.S. Lack of vigilance is the main factor of late diagnosis of glycogen storage disease type II in the Republic of Kazakhstan. Neuromuscular Diseases. 2018;8(1):53-58. (In Russ.) https://doi.org/10.17650/2222-8721-2018-8-1-53-58
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