Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy

Abstract

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.

Advancements in magnetic resonance imaging‐based biomarkers for muscular dystrophy

“…Alterations in the concentrations of these metabolites have been shown in muscles of patients with DMD (compared with healthy controls), and these alterations have been shown to correlate with muscle function measures . Studies have also shown differences in the TMA/creatine ratios between patients with FSHD and unaffected controls, even in muscle that appears normal on T1‐weighted images, suggesting that changes in metabolic profile can be detected before fat infiltration is observed on anatomic scans …”

“…86 Studies have also shown differences in the TMA/creatine ratios between patients with FSHD and unaffected controls, even in muscle that appears normal on T1-weighted images, suggesting that changes in metabolic profile can be detected before fat infiltration is observed on anatomic scans. 87 Additional studies have also begun to explore the feasibility of using spectroscopy based on other molecules. Sodium ( 23 Na) spectroscopy, for instance, can be used to examine osmotic properties and ion homeostasis in skeletal muscle in DMD.…”

Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology – September 5–7, 2017, Ottawa, Canada1

“…Dr. Leung outlined her work in imaging in patients with FSHD, emphasizing specific muscle patterns that emerge only when sufficient numbers of patient MRIs are assessed from multiple institutions (i.e. selective semi-membranous involvement) [66,67].…”

Low Tissue Creatine: A Therapeutic Target in Clinical Nutrition

“…However, CCDS often remain underdiagnosed since the assessment of creatine metabolism is not routinely included in standard diagnostic workup [ 11 ]. Other neurological pathologies accompanied by insufficient cerebral creatine levels (or impaired creatine-related metabolic ratios) include autism spectrum disorder (ASD) [ 12 ], traumatic brain injury [ 13 ], multiple sclerosis [ 14 ], gyrate atrophy of the choroid and retina [ 15 ], post-viral fatigue syndrome [ 16 ], and brain malignancies [ 17 , 18 ], while creatine levels were suboptimal in the skeletal muscle of neurological patients suffering from muscular dystrophy and neuromuscular diseases [ 19 , 20 ]. Several cardiovascular conditions exhibit a decrease in myocardial or subendocardial creatine, such as dilated cardiomyopathy [ 21 ], aortic valve disease [ 22 ], and transplanted heart [ 23 ].…”