| Autor: |
Kai Michael Gruhn, Christoph Malte Heyer, Anne-Katrin Güttsches, Robert Rehmann, Volkmar Nicolas, Tobias Schmidt-Wilcke, Martin Tegenthoff, Matthias Vorgerd, Rudolf Andre Kley |
| Jazyk: |
angličtina |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 58-64 (2015) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2015.03.010 |
| Popis: |
Background: Late-onset Pompe disease (LOPD) is a metabolic myopathy caused by mutations in GAA and characterized by proximal muscle weakness and respiratory insufficiency. There is evidence from clinical studies that enzyme replacement therapy (ERT) with human recombinant alpha-glucosidase improves motor performance and respiratory function in LOPD. Objective: We analyzed quantitative muscle MRI data of lower limbs to evaluate the effects of long-term ERT on muscle parameters. Methods: Three symptomatic LOPD patients who received ERT for five years and four untreated presymptomatic LOPD patients were included in the study. T1-weighted MRI images were used to determine volumes of thigh and lower leg muscles. In addition, mean gray values of eight individual thigh muscles were calculated to assess the degree of lipomatous muscle alterations. Results: We detected a decrease in thigh muscle volume of 6.7% (p |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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