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Introduction/aims: Inclusion body myositis (IBM) is a myopathic condition but in some patients has been associated with an axonal length‐dependent polyneuropathy. In this study, we quantified the cross‐sectional area of the sciatic and tibial nerves in patients with IBM comparing with Charcot–Marie–Tooth disease type 1A (CMT1A) and healthy controls using magnetic resonance neurography (MRN). Methods: MRN of the sciatic and tibial nerves was performed at 3T using MPRAGE and Dixon acquisitions. Nerve cross‐sectional area (CSA) was measured at the mid‐thigh and upper third calf regions by an observer blinded to the diagnosis. Correlations were performed between these measurements and clinical data. Results: A total of 20 patients with IBM, 20 CMT1A and 29 healthy controls (age‐ and sex‐matched) were studied. Sciatic nerve CSA was significantly enlarged in patients with IBM and CMT1A compared to controls (sciatic nerve mean CSA 62.3 ± 22.9 mm2 (IBM) vs. 35.5 ± 9.9 mm2 (controls), p < 0.001; and 96.9 ± 35.5 mm2 (CMT1A) vs. 35.5 ± 9.9 mm2 (controls); p < 0.001). Tibial nerve CSA was also enlarged in IBM and CMT1 patients compared to controls. Discussion: MRN reveals significant hypertrophy of the sciatic and tibial nerves in patients with IBM and CMT1A compared to controls. Further studies are needed to correlate with neurophysiological measures and assess whether this finding is useful diagnostically. [ABSTRACT FROM AUTHOR]

Objective Recent advances in understanding Spinal Muscular Atrophy ( SMA) etiopathogenesis prompted development of potent intervention strategies and raised need for sensitive outcome measures capable of assessing disease progression and response to treatment. Several biomarkers have been proposed; nevertheless, no general consensus has been reached on the most feasible ones. We observed a wide range of measures over 1 year to assess their ability to monitor the disease status and progression. Methods 18 SMA patients and 19 healthy volunteers ( HV) were followed in this 52-weeks observational study. Quantitative- MRI ( qMRI) of both thighs and clinical evaluation of motor function was performed at baseline, 6, 9 and 12 months follow-up. Blood samples were taken in patients for molecular characterization at screening, 9 and 12 month follow-up. Progression, responsiveness and reliability of collected indices were quantified. Correlation analysis was performed to test for potential associations. Results QMRI indices, clinical scales and molecular measures showed high to excellent reliability. Significant differences were found between qMRI of SMA patients and HV. Significant associations were revealed between multiple qMRI measures and functional clinical scales. None of the qMRI, clinical, or molecular measures was able to detect significant disease progression over 1 year. Interpretation We probed a variety of quantitative measures for SMA in a slowly-progressing disease population over 1 year. The presented measures demonstrated potential to provide a closer link to underlying disease biology as compared to conventional functional scales. The proposed biomarker framework can guide implementation of more sensitive endpoints in future clinical trials and prove their utility in search for novel disease-modifying therapies. [ABSTRACT FROM AUTHOR]

Introduction: In this study we investigated muscle magnetic resonance imaging in congenital myasthenic syndromes (CMS).Methods: Twenty-six patients with 9 CMS subtypes and 10 controls were imaged. T1-weighted (T1w) and short-tau inversion recovery (STIR) 3-Tesla MRI images obtained at thigh and calf levels were scored for severity.Results: Overall mean the T1w score was increased in GFPT1 and DPAGT1 CMS. T1w scans of the AChR-deficiency, COLQ, and CHAT subjects were indistinguishable from controls. STIR images from CMS patients did not differ significantly from those of controls. Mean T1w score correlated with age in the CMS cohort.Conclusions: MRI appearances ranged from normal to marked abnormality. T1w images seem to be especially abnormal in some CMS caused by mutations of proteins involved in the glycosylation pathway. A non-selective pattern of fat infiltration or a normal-appearing scan in the setting of significant clinical weakness should suggest CMS as a potential diagnosis. Muscle MRI could play a role in differentiating CMS subtypes. Muscle Nerve 54: 211-219, 2016. [ABSTRACT FROM AUTHOR]

Purpose To compare the influence of two limb positions and slice prescription using scout-image-based and surface-anatomy-based methods on the reproducibility of quantitative MRI of lower-limb muscles. Materials and Methods Ten healthy subjects were scanned at 3 Tesla with a two-dimensional turbo spin-echo T1-weighted acquisition. Imaging was performed at thigh and calf level in two subject limb positions and independently repeated by a second operator. Regions-of-interest (ROI) were drawn on three muscles at thigh and calf levels on axial slices at fixed distance from the knee joint and at a level determined by surface anatomy. Results Test-retest reliability of muscle cross-sectional area and ROI area overlap were similar for both limb positioning methods. Changing limb position between scans reduced ROI overlap ( P < 0.01). Scout-image-based slice prescription resulted in narrower limits of agreement and higher intraclass correlation coefficients compared with surface-anatomy-based slice prescription. Conclusion Slice prescription based on fixed distance from the knee joint provided superior reproducibility of slice location than a surface anatomy-based method and should be used for longitudinal quantitative MRI studies. Exact subject positioning will depend on scanner and coil configuration, but should be consistent through a longitudinal study. J. Magn. Reson. Imaging 2014;39:1033-1038. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Purpose To analyze and compare three quantitative MRI methods to determine the degree of muscle involvement in oculopharyngeal muscular dystrophy (OPMD). Materials and Methods Muscle fat content (MFC) was determined based on water-fat quantification using a 2-point Dixon (2PD) method and on a histogram analysis of the free induction decay (FID) signal of a gradient-spoiled steady-state free precession (SSFP) sequence. In addition, transverse relaxation times (T2) of muscle tissue were calculated using a monoexponential decay model. Results We observed an increased mean MFC in OPMD patients as compared to healthy controls with the adductor magnus and soleus muscles being the most involved muscles in the thigh and calf, respectively. Furthermore, strong correlations (0.78 < R2 < 0.94) between different quantitative MR methods were observed. Fewer outliers, however, were obtained by the 2PD method and T2 measurements, suggesting these methods being superior to the SSFP-FID method. Conclusion Quantitative MR techniques, such as fast multiecho Dixon methods and T2 imaging, can reliably differentiate between healthy and dystrophic muscles in OPMD, even if muscles are only marginally affected. Quantitative methods thus represent a promising tool that may be able to monitor more objectively the individual disease progression and treatment response in future clinical trials in muscular dystrophies. J. Magn. Reson. Imaging 2011;33:203-210. © 2010 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

ABSTRACT Introduction: Quantitative MRI techniques detect disease progression in myopathies more sensitively than muscle function measures or conventional MRI. To date, only conventional MRI data using visual rating scales are available for measurement of disease progression in Becker muscular dystrophy (BMD). Methods: In 3 patients with BMD (mean age 36.8 years), the mean fat fraction (MFF) of the thigh muscles was assessed by MRI at baseline and at 1-year follow-up using a 2-point Dixon approach (2PD). The motor function measurement scale (MFM) was used for clinical assessment. Results: The mean MFF of all muscles at baseline was 61.6% (SD 7.6). It increased by 3.7% to 65.3% (SD 4.7) at follow-up. The severity of muscle involvement varied between various muscle groups. Conclusions: As in other myopathies, 2PD can quantify fatty muscle degeneration in BMD and can detect disease progression in a small sample size and at relatively short imaging intervals. Muscle Nerve 51: 918-921, 2015 [ABSTRACT FROM AUTHOR]