scholarly journals Whole-Body Muscle MRI Characteristics of LAMA2 Gene Mutation Congenital Muscular Dystrophy Children

2021 ◽  
Author(s):  
Hossam M. Sakr ◽  
Nagia Fahmy ◽  
Nermine S. Elsayed ◽  
Hala Abdulhady ◽  
Tamer A. El-Sobky ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Fatty Infiltration ◽  
Congenital Muscular Dystrophy ◽  
Whole Body ◽  
Control Group ◽  
Muscle Mri ◽  
Muscle Involvement ◽  
Muscle Diseases ◽  
Body Muscle ◽  
Index Group

Merosin-deficient or LAMA2-related congenital muscular dystrophy (CMD) belongs to a group of muscle diseases with an overlapping diagnostic spectrum. MRI plays an important role in the diagnosis and disease-tracking of muscle diseases. Whole-body MRI is ideal for describing patterns of muscle involvement. Our purpose is to analyze the pattern of muscle involvement in merosin-deficient CMD children employing whole-body muscle MRI. Ten children with merosin-deficient CMD underwent whole-body muscle MRI. We used a control group of other hereditary muscle diseases, which included 13 children. Overall, 37 muscles were graded for fatty infiltration using Mercuri scale modified by Fischer et al 2008. The results showed a fairly consistent pattern of muscle fatty infiltration in index group, which differed from that in control group. There was a highly statistically significant difference between the two groups in regard to the fatty infiltration of the neck, serratus anterior, rotator cuff, deltoid, forearm, gluteus maximus, gluteus medius, gastrocnemius and soleus muscles. Additionally, results showed relative sparing of the brachialis, biceps brachii, gracilis, sartorius, semitendinosus and extensor muscles of the ankle in index group. There is evidence to suggest that whole-body muscle MRI can become a useful contributor to the differential diagnosis of merosin deficient CMD.

Whole-Body Muscle MRI Characteristics of LAMA2-related Congenital Muscular Dystrophy Children: An Emerging Pattern

2021 ◽  
Author(s):  
Hossam M. Sakr ◽  
Nagia Fahmy ◽  
Nermine S. Elsayed ◽  
Hala Abdulhady ◽  
Tamer A. El-Sobky ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Whole Body ◽  
Muscle Mri ◽  
Body Muscle ◽  
Mri Characteristics ◽  
Emerging Pattern

Imaging Patterns of Muscle Atrophy

2018 ◽  
Vol 22 (03) ◽  
pp. 299-306 ◽  
Author(s):  
Marcel Wolf ◽  
Mike Wattjes ◽  
Marc-André Weber
Keyword(s):  
Diagnostic Value ◽  
Quantitative Mri ◽  
Whole Body ◽  
Dystrophic Muscle ◽  
Muscle Mri ◽  
Muscle Involvement ◽  
Muscle Diseases ◽  
Surrogate Outcome ◽  
Magnetic Resonance Imaging Mri

AbstractThe role of muscle imaging in the diagnosis of inherited and acquired muscle diseases has gained clinical relevance. In particular, magnetic resonance imaging (MRI) is increasingly being used for diagnostic purposes, especially with its capability of whole-body musculature assessment. The assessment and quantification of muscle involvement in muscle diseases can be of diagnostic value by identifying a certain involvement pattern and thus narrowing the differential diagnosis and supporting the clinical diagnosis. In addition, more recently the role of imaging has gone beyond diagnostic purposes and includes disease as well as treatment monitoring. Conventional and quantitative muscle MRI techniques allow for the detection of subclinical disease progression (e.g., in muscular dystrophies) and is a powerful surrogate outcome measure in clinical trials. We present and discuss recent data on the role of conventional and quantitative MRI in the diagnosis and monitoring of inherited dystrophic muscle diseases as well as muscle denervation.

Thigh and Leg Muscle MRI Findings in GNE Myopathy

2021 ◽  
pp. 1-8
Author(s):  
Farzad Fatehi ◽  
Soroor Advani ◽  
Ali Asghar Okhovat ◽  
Bentolhoda Ziaadini ◽  
Hosein Shamshiri ◽  
...  
Keyword(s):  
Tibialis Anterior ◽  
Vastus Lateralis ◽  
Fatty Infiltration ◽  
Muscular Dystrophies ◽  
Tibialis Posterior ◽  
Muscle Mri ◽  
Muscle Involvement ◽  
Fat Infiltration ◽  
Gne Myopathy ◽  
Adductor Magnus

Background: Muscle MRI protocols have been developed to assess muscle involvement in a wide variety of muscular dystrophies. Different muscular dystrophies can involve muscle groups in characteristic patterns. These patterns can be identified in muscle MRI in the form of fatty infiltration. Objective: This study was conducted to add the existing knowledge of muscle MRI in GNE myopathy and evaluate the correlation of muscular involvement with different gene mutations. Methods: The MRI scans of the 18 GNE patients were analyzed retrospectively. Cluster analysis was done for grouping the muscles and patients. Results: The four muscles with the highest fat infiltration were adductor magnus, tibialis anterior, semitendinosus, and semimembranosus. Furthermore, three clusters of muscle involvement were found, including cluster 1, typical muscle involvement indicating muscles with the highest infiltration: extensor digitorum longus, gracilis, biceps femoris, soleus, gastrocnemius medial, adductor longus, tibialis anterior, adductor magnus, semimembranosus, semitendinosus; cluster 2, less typical muscle involvement indicating muscles with intermediate fat infiltration, peroneus longus, gastrocnemius lateral, and minimal fat infiltration in most of the patients, i.e., tibialis posterior; and cluster 3, atypical muscle involvement with low-fat infiltration: rectus femoris, sartorius, vastus intermedius, vastus medialis, and vastus lateralis. Conclusions: This study found three clusters of muscle involvement and three groups of patients among GNE patients. Hamstring muscles and the anterior compartment of the lower leg were the muscles with the highest fat infiltration. Moreover, a weak genotype-muscle MRI association was found in which tibialis posterior was more involved in patients with the most frequent mutation, i.e., C.2228T >  C (p.M743T) mutation; however, this finding may be related to longer disease duration.

Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders

2012 ◽  
Vol 22 ◽  
pp. S68-S84 ◽  
Author(s):  
Susana Quijano-Roy ◽  
Daniela Avila-Smirnow ◽  
Robert Y. Carlier
Keyword(s):  
Pattern Recognition ◽  
Early Onset ◽  
Whole Body ◽  
Muscle Mri ◽  
Body Muscle ◽  
Mri Protocol

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

2012 ◽  
Vol 22 ◽  
pp. S137-S147 ◽  
Author(s):  
Mohamed Jarraya ◽  
Susana Quijano-Roy ◽  
Nicole Monnier ◽  
Anthony Béhin ◽  
Daniela Avila-Smirnov ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Congenital Myopathy ◽  
Whole Body ◽  
Muscle Mri ◽  
Body Muscle

scholarly journals Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study

2020 ◽  
Vol 7 (4) ◽  
pp. 407-417
Author(s):  
Abhinandan Batra ◽  
Donovan J. Lott ◽  
Rebecca Willcocks ◽  
Sean C. Forbes ◽  
William Triplett ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Lower Extremity ◽  
Matrix Protein ◽  
Fatty Infiltration ◽  
Extracellular Matrix Protein ◽  
Collagen Vi ◽  
Muscle Involvement ◽  
Lower Extremity Muscle ◽  
Unaffected Control

Collagen VI-related dystrophies (COL6-RDs) and Duchenne muscular dystrophy (DMD) cause progressive muscle weakness and disability. COL6-RDs are caused by mutations in the COL6 genes (COL6A1, COL6A2 and COL6A3) encoding the extracellular matrix protein collagen VI, and DMD is caused by mutations in the DMD gene encoding the cytoplasmic protein dystrophin. Both COL6-RDs and DMD are characterized by infiltration of the muscles by fatty and fibrotic tissue. This study examined the effect of disease pathology on skeletal muscles in lower extremity muscles of COL6-RDs using timed functional tests, strength measures and qualitative/ quantitative magnetic resonance imaging/spectroscopy measures (MRI/MRS) in comparison to unaffected (control) individuals. Patients with COL6-RD were also compared to age and gender matched patients with DMD. Patients with COL6-RD presented with a typical pattern of fatty infiltration of the muscle giving rise to an apparent halo effect around the muscle, while patients with DMD had evidence of fatty infiltration throughout the muscle areas imaged. Quantitatively, fat fraction, and transverse relaxation time (T2) were elevated in both COL6-RD and DMD patients compared to unaffected (control) individuals. Patients with COL6-RD had widespread muscle atrophy, likely contributing to weakness. In contrast, patients with DMD revealed force deficits even in muscle groups with increased contractile areas.

scholarly journals Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report

2017 ◽  
Vol 7 (2) ◽  
pp. 193-196 ◽  
Author(s):  
Yingyin Liang ◽  
Guidian Li ◽  
Songlin Chen ◽  
Rongxing He ◽  
Xiangxue  Zhou ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Mri Findings ◽  
Muscle Mri ◽  
One Year

scholarly journals Dynamic magnetic resonance imaging of muscle contraction in facioscapulohumeral muscular dystrophy

2021 ◽  
Author(s):  
Xeni Deligianni ◽  
Francesco Santini ◽  
Matteo Paoletti ◽  
Francesca Solazzo ◽  
Niels Bergsland ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Imaging Techniques ◽  
Neuromuscular Disorders ◽  
Neuromuscular Electrical Stimulation ◽  
Dynamic Mri ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Quantitative Mri ◽  
Muscle Properties ◽  
Muscle Mri ◽  
Muscle Involvement

Background: Quantitative muscle MRI (water-T2 and fat mapping) is being increasingly used to assess disease involvement in muscle disorders, while imaging techniques for assessment of the dynamic and elastic muscle properties have not been translated yet into clinics. Methods: Here, we quantitatively characterized muscle deformation (strain) in patients affected by facioscapulohumeral muscular dystrophy (FSHD), a prevalent muscular dystrophy, by applying dynamic MRI synchronized with neuromuscular electrical stimulation (NMES). We evaluated the quadriceps muscles in 34 ambulatory patients and 12 healthy controls, at 6 month intervals. Results: We found that while a subgroup of patients behaved similarly to controls, for another subgroup the strain significantly decreased over time (50% over 1.5 years). Dynamic MRI parameters did not correlate with quantitative MRI. Conclusions: In conclusion, our results suggest that the evaluation of muscle ability to contract by NMES-MRI could be used to explore the elastic properties and monitor muscle involvement in FSHD and other neuromuscular disorders.

Sign in / Sign up

Export Citation Format

Share Document