@article{f5d7b5169628479d84049036bc5d680a,
title = "Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy",
abstract = " Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. This study evaluates the use of proton magnetic resonance spectroscopy ( 1 H MRS) as a biomarker of muscle strength and function in FSHD. Methods: Thirty-six individuals with FSHD and 15 healthy controls underwent multivoxel 1 H MRS of a cross-section of the mid-thigh. Concentrations of creatine, intramyocellular and extramyocellular lipids, and trimethylamine (TMA)-containing compounds in skeletal muscle were calculated. Metabolite concentrations for individuals with FSHD were compared with those of controls. The relationship between metabolite concentrations and muscle strength was also examined. Results: The TMA/creatine (Cr) ratio in individuals with FSHD was reduced compared with controls. The TMA/Cr ratio in the hamstrings also showed a moderate linear correlation with muscle strength. Discussion: 1 H MRS offers a potential method of detecting early muscle pathology in FSHD prior to the development of fat infiltration. Muscle Nerve 57: 958–963, 2018. ",
keywords = "biomarkers, facioscapulohumeral muscular dystrophy, magnetic resonance spectroscopy, metabolite quantification, skeletal muscle, trimethylamine",
author = "Leung, {Doris G.} and Xin Wang and Barker, {Peter B.} and Carrino, {John A.} and Wagner, {Kathryn R.}",
note = "Funding Information: Abbreviations: 1H, proton; Cr, creatine; DMD, Duchenne muscular dystrophy; EMCL, extramyocellular lipid; FOV, field of view; FSHD, facioscapulohumeral muscular dystrophy; IMCL, intramyocellular lipid; IU, institutional unit; MPRAGE, magnetization prepared rapid gradient echo; MRS, magnetic resonance spectroscopy; STIR, short-tau inversion recovery; TE, echo time; TI, inversion time; TMA, trimethylamine; TR, repetition time Key words: biomarkers; facioscapulohumeral muscular dystrophy; magnetic resonance spectroscopy; metabolite quantification; skeletal muscle; trimethylamine Funding: Funding for this work was provided by The Johns Hopkins Clinical Research Scholars Program (KL2TR001077), the National Institute of Neurological Disorders and Stroke Mentored Patient-Oriented Research Career Development Award (5 K23 NS091379), the American Academy of Neurology Foundation Clinical Research Training Fellowship, the FSH Society Irene Lai research grant (FSHS-82011-02), and the National Institutes of Health/National Institute of Child Health and Human Development (U54HD060848). Funding Information: The authors thank the participants of this study and their families; the FSH Society for their help in recruitment; and Hugh Wall, Cynthia Maranto, and Cynthia Schultz for their assistance in scanning the research participants. Ethical Publication Statement: We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines. Publisher Copyright: {\textcopyright} 2017 Wiley Periodicals, Inc.",
year = "2018",
month = jun,
doi = "10.1002/mus.26048",
language = "English (US)",
volume = "57",
pages = "958--963",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "6",
}