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- W2037498051 abstract "Facioscapulohumeral dystrophy (FSHD) is the third most common muscular-dystrophy and is typically characterized by asymmetry of skeletal muscle involvement was to exploit whether MR imaging and spectroscopy can serve as a non-invasive biomarker to asses disease severity, enable therapy evaluation and study disease pathobiology. Thirty genetically proven FSHD patients were examined on a Siemens Trio 3T system. Measurements were performed on the thigh muscles of the patients. Fat infiltration was quantitatively determined with a method earlier described (Kan et al., 2009). Ratio of the high energy compounds (PCr, ATP and Pi) and the pH of the muscles were studied with 31-phosphorus MRS. Strength of the quadriceps and hamstrings muscles was assessed by a myometry setup. Three-hundred and fifty-three thigh muscles were investigated, of which 232 twice. Analysis of the fat fraction showed that muscles of FSHD patients are nearly binary divided between high and low fat fraction. Differences were found between the first and second measurement (100 days). Muscles with an intermediate fat infiltration showed the largest increase in fat fraction over time. This suggests that once disease onset is triggered it inevitably and rapidly leads to complete fat infiltration of the muscle. Fat fraction of the quadriceps and hamstring muscles correlated with the muscle strength. PCr/ATP ratio showed a significant decrease with increasing fat fraction. Fat fraction determined with MR can serve as a biomarker since it was sensitive enough to measure changes over a short period of time and correlates with muscle strength. The decrease in PCr/ATP ratio may be an attempt to compensate for overload in development towards a FSHD condition, for instance by adapting to a more oxidative phenotype." @default.
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- W2037498051 date "2011-10-01" @default.
- W2037498051 modified "2023-09-27" @default.
- W2037498051 title "P2.37 MR as biomarker for disease evaluation in facioscapulohumeral dystrophy" @default.
- W2037498051 doi "https://doi.org/10.1016/j.nmd.2011.06.859" @default.
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