MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies (original) (raw)
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PLoS ONE, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is an untreatable disease, characterized by asymmetric progressive weakness of skeletal muscle with fatty infiltration. Although the main genetic defect has been uncovered, the downstream mechanisms causing FSHD are not understood. The objective of this study was to determine natural disease state and progression in muscles of FSHD patients and to establish diagnostic biomarkers by quantitative MRI of fat infiltration and phosphorylated metabolites. MRI was performed at 3T with dedicated coils on legs of 41 patients (28 men/13 women, age 34-76 years), of which eleven were re-examined after four months of usual care. Muscular fat fraction was determined with multi spin-echo and T1 weighted MRI, edema by TIRM and phosphorylated metabolites by 3D 31 P MR spectroscopic imaging. Fat fractions were compared to clinical severity, muscle force, age, edema and phosphocreatine (PCr)/ATP. Longitudinal intramuscular fat fraction variation was analyzed by linear regression. Increased intramuscular fat correlated with age (p,0.05), FSHD severity score (p,0.0001), inversely with muscle strength (p,0.0001), and also occurred subclinically. Muscles were nearly dichotomously divided in those with high and with low fat fraction, with only 13% having an intermediate fat fraction. The intramuscular fat fraction along the muscle's length, increased from proximal to distal. This fat gradient was the steepest for intermediate fat infiltrated muscles (0.0760.01/cm, p,0.001). Leg muscles in this intermediate phase showed a decreased PCr/ATP (p,0.05) and the fastest increase in fatty infiltration over time (0.1860.15/year, p,0.001), which correlated with initial edema (p,0.01), if present. Thus, in the MR assessment of fat infiltration as biomarker for diseased muscles, the intramuscular fat distribution needs to be taken into account. Our results indicate that healthy individual leg muscles become diseased by entering a progressive phase with distal fat infiltration and altered energy metabolite levels. Fat replacement then relatively rapidly spreads over the whole muscle.
The use of MRI in the evaluation of myopathy
Clinical Neurophysiology, 2006
MRI has revolutionized the practice of many branches of medicine. However, within the field of Neurology MRI is used almost exclusively to examine the structure of portions of the central nervous system. Despite a limited number of objective tests, MRI remains an underutilized tool in the examination of the peripheral nervous system. This review will briefly discuss the limitations of current testing, and then summarize how the physics of MRI helps predict normal and abnormal findings in disease affecting skeletal muscle. The cardinal radiologic abnormalities affecting muscle (atrophy, hypertrophy, pseudohypertrophy, mass, and altered signal intensity) are reviewed. Special attention is given to how MRI can be utilized during the evaluation of such disorders. Finally, the roles of MRI as a prognostic tool and as a potential endpoint in long-term management of myopathy are evaluated.
Frontiers in Neurology, 2021
Background: The overlapping clinical presentations of limb-girdle muscular dystrophy (LGMD) and idiopathic inflammatory myopathy (IIM) make clinical diagnosis challenging. This study provides a comprehensive evaluation of the distributions and characteristics of muscle fat substitution and edema and aims to differentiate those two diseases. Methods: This retrospective study reviewed magnetic resonance imaging (MRI) of seventeen patients with pathologically proved diagnosis, comprising 11 with LGMD and 6 with IIM. The fat-only and water-only images from a Dixon sequence were used to evaluate muscle fat substitution and edema, respectively. The degrees of muscle fat substitution and edema were graded and compared using the appropriate statistical methods. Results: In LGMD, more than 50% of patients had high-grade fat substitution in the majority of muscle groups in the thigh and calf. However, <50% of IIM patients had high-grade fat substitution in all muscle groups. Moreover, LGMD...
Egyptian Journal of Radiology and Nuclear Medicine
Background Multifidus muscle (MF) is one of the back muscles of the spine that is involved in the pathogenesis of low back pain. Its role as a stabilizer of the spine continues to present diagnostic and therapeutic challenges. The degree of MF degeneration is dependent on multiple clinical and radiological factors. We proposed a new equation to predict MF degeneration based upon clinical and radiological changes in magnetic resonance imaging. Methods Clinical factors associated with MF degeneration include visual analogue scale (VAS) for pain, body mass index, duration of complaint, age of the patients and the presence of sciatica. Other radiological factors include the number of disc pathologies, neural canal stenosis and facet joint arthropathies, by building a module of a univariate and multivariate linear regression analysis for the parameters affecting MF degeneration score as a dependent variable. Results Regarding the univariate and multivariate linear regression for factors ...
Open Journal of Medical Imaging
Purpose: To evaluate the relationship between lumbosacral discopathy status and paraspinal atrophic changes (Cross-sectional area (CSA) and fatty infiltration (FI)) among different age groups. Materials and Methods: We retrospectively evaluated 200 patients with confirmed discopathy who were examined by lumbosacral Magnetic Resonance Imaging (MRI) at the two main governmental hospitals in Gaza Strip. Using ImageJ software and quantification threshold technique, we measured the CSA and FI of paraspinal muscles {multifidus (MF) & erector spinae (ES)}. The interpretation of MRI images was performed by two radiologists with a good inter-observer agreement between the radiological discopathy findings. Results: The highest percentage and severity of discopathy were noticed at the level of L4/5 (89.5%), followed by L5/S1 (14.5%). The FI is increased towards lower levels of L3/4 to L5/S1. No correlation was found between discopathy level, the severity of discopathy, and CSA of MF & ES muscles. In contrast, a correlation was observed between FI of MF & ES muscles, discopathy level, and severity. Also, the results illustrated no significant relation was observed between CSA of MF & ES muscles and age groups (P > 0.05), while a significant correlation was reported between FI and age groups (P < 0.05). Conclusion: The MRI quantification threshold pixel technique for paraspinal muscles reflected the atrophic changes like CSA and FI in discopathy patients.
Whole-body MRI evaluation of facioscapulohumeral muscular dystrophy
Muscle & nerve, 2015
Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. Increasing knowledge of the pathophysiology of FSHD has stimulated interest in developing biomarkers of disease severity. Methods: Two groups of MRI scans were analyzed: whole-body scans from 13 subjects with FSHD, and upper and lower extremity scans from 34 subjects with FSHD who participated in the MYO-029 clinical trial. Muscles were scored for fat infiltration and edema-like changes. Fat infiltration scores were compared to muscle strength and function. Results: Our analysis reveals a distinctive pattern of both frequent muscle involvement and frequent sparing in FSHD. Averaged fat infiltration scores for muscle groups in the legs correlated with quantitative muscle strength and 10-meter walk times. Discussion: Advances in MRI technology allow for the acquisition of rapid, high-quality whole-body imaging in diffuse muscle disease. This technique offers a p...
Quantitative MRI reveals decelerated fatty infiltration in muscles of active FSHD patients
Neurology, 2016
To investigate the effects of aerobic exercise training (AET) and cognitive-behavioral therapy (CBT), directed towards an increase in daily physical activity, on the progression of fatty infiltration and edema in skeletal muscles of patients with facioscapulohumeral muscular dystrophy (FSHD) type 1 by T2 MRI. Quantitative T2 MRI (qT2 MRI) and fat-suppressed T2 MRI of the thigh were performed at 3T on 31 patients, 13 of whom received usual care (UC), 9 AET, and 9 CBT. Muscle-specific fat fractions (%), derived from qT2 MRI, were recorded pretreatment and posttreatment. Intervention effects were analyzed by comparing fat fraction progression rates of the UC with the treated groups using Mann-Whitney tests, and intermuscle differences by a linear mixed model. Edematous hyperintense lesions were identified on the fat-suppressed T2 MRI. The intraclass correlation coefficient for reproducibility of qT2 MRI fat assessment was 0.99. In the UC group, the fat fraction increased by 6.7/year (9...
Magnetic resonance imaging pattern variability in dysferlinopathy // Acta Myologica. 2021. Vol. XL.
The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy. However, sufficient attention has not been given to the variability of MRI patterns in dysferlinopathy. Materials and methods. Twenty-five patients with the clinical manifestations of dysferlinopathy were examined. For all patients, creatine phosphokinase levels were measured and molecular genetics were examined. In two patients, immu- nohistochemical examinations of muscle biopsies were performed. MRI scanning was included T2 multi-slice multi-echo, T1 weighted, T2 weighted and Short Tau Inversion Recovery T2 weighted sequences. Quantitative and semi-quantitative evaluations of fatty replacement and swelling of the muscles were undertaken. Results. Variability in the MRI patterns was lowest in the pelvis and leg muscles and highest in the thigh muscles. Three main types of MRI patterns were distin- guished: posterior-dominant (80%), anterior-dominant (16%), and diffuse (4%). Among patients with the anterior-dominant pattern, the collagen-like variant (4%), proximal variant (4%) and pseudo-myositis (8%) were separately distinguished. Conclusions. Awareness of atypical MRI patterns in dysferlinopathy is important for increasing the efficiency of routine diagnostics and optimizing the search for causative gene mutations.