Late-onset Pompe disease: first clinical description in Russia
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 cardiomyopa...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2015-02-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/13 |
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| author | S. S. Nikitin M. O. Kovalchuk E. U. Zaharova V. V. Tsivileva |
| author_facet | S. S. Nikitin M. O. Kovalchuk E. U. Zaharova V. V. Tsivileva |
| author_sort | S. S. Nikitin |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-4575c1767e0844fabca76c6d2933d8b0 |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2015-02-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-4575c1767e0844fabca76c6d2933d8b02025-08-20T04:00:20ZrusABV-pressНервно-мышечные болезни2222-87212413-04432015-02-0101626810.17650/2222-8721-2014-0-1-62-687Late-onset Pompe disease: first clinical description in RussiaS. S. Nikitin0M. O. Kovalchuk1E. U. Zaharova2V. V. Tsivileva3Scientific Research Institute of Pathology and Pathophysiology, Russian Academy of Medical SciencesFederal Research Clinical Center of Federal Medico-Biological CenterLabarotary of Inherited Metabolic Diseases of Medical Genetic Scientific Center, Russian Academy of Medical Sciences, MoscowFederal Research Clinical Center of Federal Medico-Biological CenterLate-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.https://nmb.abvpress.ru/jour/article/view/13storage diseaseglycogenosis type iiautosomal-recessive inheritancepompe diseaselate-onset pompe diseaseinfantile formautophagylimb-girdle myopathyhyperlordosismyotonic dischargesckacid α-glucosidaselysosomedry blood spot test |
| spellingShingle | S. S. Nikitin M. O. Kovalchuk E. U. Zaharova V. V. Tsivileva Late-onset Pompe disease: first clinical description in Russia Нервно-мышечные болезни storage disease glycogenosis type ii autosomal-recessive inheritance pompe disease late-onset pompe disease infantile form autophagy limb-girdle myopathy hyperlordosis myotonic discharges ck acid α-glucosidase lysosome dry blood spot test |
| title | Late-onset Pompe disease: first clinical description in Russia |
| title_full | Late-onset Pompe disease: first clinical description in Russia |
| title_fullStr | Late-onset Pompe disease: first clinical description in Russia |
| title_full_unstemmed | Late-onset Pompe disease: first clinical description in Russia |
| title_short | Late-onset Pompe disease: first clinical description in Russia |
| title_sort | late onset pompe disease first clinical description in russia |
| topic | storage disease glycogenosis type ii autosomal-recessive inheritance pompe disease late-onset pompe disease infantile form autophagy limb-girdle myopathy hyperlordosis myotonic discharges ck acid α-glucosidase lysosome dry blood spot test |
| url | https://nmb.abvpress.ru/jour/article/view/13 |
| work_keys_str_mv | AT ssnikitin lateonsetpompediseasefirstclinicaldescriptioninrussia AT mokovalchuk lateonsetpompediseasefirstclinicaldescriptioninrussia AT euzaharova lateonsetpompediseasefirstclinicaldescriptioninrussia AT vvtsivileva lateonsetpompediseasefirstclinicaldescriptioninrussia |