Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

Díaz‐Manera, Jordi; Alejaldre, Aída; González, Laura; Olivé, Montse; Gómez‐Andrés, David; Muelas, Nuria; Vílchez, Juan J.; Llauger, Jaume; Carbonell, Pilar; Márquez-Infante, Celedonio; Fernández‐Torrón, Roberto; Poza, Juan José; Munáin, Adolfo López de; González-Quereda, L.; Mirabet, Sònia; Clarimón, Jordi; Gallano, P.; Rojas‐García, Ricard; Gallardo, Eduard; Illa, Isabel

doi:10.1016/j.nmd.2015.10.001

Cited by 44 publications

(64 citation statements)

References 28 publications

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“…In both subtypes, paraspinal muscles, adductors, glutei, quadriceps, biceps femoris, semitendinosus, semimembranosus, soleus, and gastrocnemius were affected. The peroneal muscles were more frequently involved in patients with EDMD1 compared with EDMD2, suggesting that these muscles may help distinguish the two . The second study suggests that patterns of gastrocnemius involvement may help distinguish patients with EDMD2 from other subtypes.…”

Section: Diagnostic Testingmentioning

confidence: 84%

Emery‐Dreifuss muscular dystrophy

et al. 2019

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Emery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to frequent life‐threatening cardiac complications. EDMD classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy, although the presence and severity of these manifestations vary by subtype and individual. Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN, encoding emerin, lamin A/C, nesprin‐1, nesprin‐2, FHL1, LUMA, SUN1, SUN2, and titin, respectively. The Online Mendelian Inheritance in Man database recognizes subtypes 1 through 7, which captures most but not all of the associated genes. Genetic diagnosis is essential whenever available, but traditional diagnostic tools can help steer the evaluation toward EDMD and assist with interpretation of equivocal genetic test results. Management is primarily supportive, but it is important to monitor patients closely, especially for potential cardiac complications. There is a high potential for progress in the treatment of EDMD in the coming years.

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Section: Diagnostic Testingmentioning

confidence: 84%

Emery‐Dreifuss muscular dystrophy

et al. 2019

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“…If the pelvic region was not covered, the scores of the muscles not entirely visualised were considered as missing values. Hierarchical analysis was performed using R V.3.1.3 software (The R Foundation for Statistical Computing; http://www.r-project.org) as previously described 18. The Gower’s distance was used for clustering of patients and muscles.…”

Section: Methodsmentioning

confidence: 99%

MRI in sarcoglycanopathies: a large international cohort study

Tasca

Monforte

Díaz‐Manera

et al. 2017

J Neurol Neurosurg Psychiatry

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Muscle involvement on MRI is consistent in patients with LGMD2C-F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.

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“…However, these criteria resulted in the exclusion of several important imaging studies that utilized computed tomography (CT) or a combination of CT and MRI [78, 85, 86]. While CT can identify fat infiltration in muscle, it has not been established that scoring results from MRI are exchangeable with those from CT.…”

Section: Discussionmentioning

confidence: 99%

Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review

Leung

2016

J Neurol

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A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the hereditary myopathies. We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed in magnetic resonance imaging studies of muscular dystrophy and congenital myopathy. Searches were performed using MEDLINE, EMBASE, and grey literature databases. Studies that described fat infiltration of muscles in patients with muscular dystrophy or congenital myopathy were selected for full-length review. Data on preferentially involved or spared muscles were extracted for analysis. A total of 2172 titles and abstracts were screened, and 70 publications met our criteria for inclusion in the systematic review. There were 23 distinct genetic disorders represented in this analysis. In most studies, preferential involvement and sparing of specific muscles were reported. We conclude that magnetic resonance imaging studies can be used to identify distinct patterns of muscle involvement in the hereditary myopathies. However, larger studies and standardized methods of reporting are needed to develop imaging as a diagnostic tool in these diseases.

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Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

Cited by 44 publications

References 28 publications

Emery‐Dreifuss muscular dystrophy

Emery‐Dreifuss muscular dystrophy

MRI in sarcoglycanopathies: a large international cohort study

Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review

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