Email this article Late-onset Pompe disease: first clinical description in Russia
- Authors: Nikitin S.S.1, Kovalchuk M.O.2, Zaharova E.U.3, Tsivileva V.V.2
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Affiliations:
- Scientific Research Institute of Pathology and Pathophysiology, Russian Academy of Medical Sciences
- Federal Research Clinical Center of Federal Medico-Biological Center
- Labarotary of Inherited Metabolic Diseases of Medical Genetic Scientific Center, Russian Academy of Medical Sciences, Moscow
- Issue: Vol 4, No 1 (2014)
- Pages: 62-68
- Section: CLINICAL DISCUSSION
- Published: 19.04.2014
- URL: https://nmb.abvpress.ru/jour/article/view/13
- DOI: https://doi.org/10.17650/2222-8721-2014-0-1-62-68
- ID: 13
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Abstract
Late-onset Pompe-disease (LOPD) is an adult form of the glycogenosis type II. The age of onset ranges from 1 till 75 y.o. and older. The diagnosis of LOPD is based on the presence of trunk and limb-girdle muscle weakness with hyperlordosis, respiratory failure, ocasionally accompanied by cardiomyopathy, persistent mild elevation of creatine kinase, dry blood spot test of the enzyme activity and DNA-analysis of GAA-gene. Early recognition of the LOPD and beginning of the enzyme replacement therapy is important in preventing severe motor and respiratory deficit, the patient disability and in increasing the survival in those patients.
About the authors
S. S. Nikitin
Scientific Research Institute of Pathology and Pathophysiology, Russian Academy of Medical Sciences
Email: fake@neicon.ru
Russian Federation
M. O. Kovalchuk
Federal Research Clinical Center of Federal Medico-Biological Center
Author for correspondence.
Email: maria.oleg.kov@gmail.com
Russian Federation
E. U. Zaharova
Labarotary of Inherited Metabolic Diseases of Medical Genetic Scientific Center, Russian Academy of Medical Sciences, Moscow
Email: fake@neicon.ru
Russian Federation
V. V. Tsivileva
Federal Research Clinical Center of Federal Medico-Biological Center
Email: fake@neicon.ru
Russian Federation
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