Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood

Brockmann, Knut; Becker, P. E.; Schreiber, Gudrun; Neubert, Karin; Brunner, Edgar; Bönnemann, Carsten G.

doi:10.1016/j.nmd.2007.03.015

Cited by 70 publications

(68 citation statements)

References 29 publications

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“…Muscle ultrasound and MRI studies can help distinguish neurogenic from myopathic disorders 34 and show pathognomonic patterns for specific CMD subtypes. 35 Muscle MRI studies likewise can help identify CMD subtypes, including collagenopathies and SEPN1-related myopathies.…”

Section: E412e43mentioning

confidence: 99%

“…Three Class I articles [34][35][36] and 1 Class II article 37 provided evidence that skeletal muscle imaging in children with suspected CMD using MRI, ultrasound, and CT often demonstrates signal abnormalities that suggest subtype-specific diagnoses. This has been most extensively documented in CMD subtypes associated with rigidity of the spine, such as collagenopathies and SEPN1-related myopathy.…”

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confidence: 99%

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Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy

et al. 2015

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Objective: To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature.Methods: Relevant, peer-reviewed research articles were identified using a literature search of the MEDLINE, EMBASE, and Scopus databases. Diagnostic and therapeutic data from these articles were extracted and analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and therapeutic studies. Recommendations were linked to the strength of the evidence, other related literature, and general principles of care.Results: The geographic and ethnic backgrounds, clinical features, brain imaging studies, muscle imaging studies, and muscle biopsies of children with suspected CMD help predict subtype-specific diagnoses. Genetic testing can confirm some subtype-specific diagnoses, but not all causative genes for CMD have been described. Seizures and respiratory complications occur in specific subtypes. There is insufficient evidence to determine the efficacy of various treatment interventions to optimize respiratory, orthopedic, and nutritional outcomes, and more data are needed regarding complications. Recommendations: Multidisciplinary care by experienced teams is important for diagnosing andpromoting the health of children with CMD. Accurate assessment of clinical presentations and genetic data will help in identifying the correct subtype-specific diagnosis in many cases. Multiorgan system complications occur frequently; surveillance and prompt interventions are likely to be beneficial for affected children. More research is needed to fill gaps in knowledge regarding this category of muscular dystrophies. Neurology ® 2015;84:1369-1378 GLOSSARY AAN 5 American Academy of Neurology; AANEM 5 American Association of Neuromuscular & Electrodiagnostic Medicine; B3GALNT2 5 b-1,3-N-acetylgalactosaminyltransferase 2; B3GNT1 5 b-1,3-N-acetylglucosaminyltransferase 1; CK 5 creatine kinase; CMD 5 congenital muscular dystrophy; COL6A1 5 collagen 6a1; COL6A2 5 collagen 6a2; COL6A3 5 collagen 6a3; DAG1 5 a-dystroglycan; FKTN 5 fukutin; GMPPB 5 GDP-mannose pyrophosphorylase B; LAMA2 5 laminin a2; LMNA 5 lamin A/C; MD 5 muscular dystrophy; MDC 5 merosin-deficient congenital muscular dystrophy; SEPN1 5 selenoprotein 1; SGK196 5 protein-O-mannose kinase; TMEM5 5 TMEM5.

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Section: E412e43mentioning

confidence: 99%

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confidence: 99%

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy

et al. 2015

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“…10,42,98 Quantification of muscle echo intensity improved the sensitivity to 87%-92%. 35,62,64,67 With this high sensitivity, muscle ultrasound is very suitable for screening purposes.…”

Section: Ultrasound In Neuromuscular Disordersmentioning

confidence: 99%

Muscle ultrasound in neuromuscular disorders

2008

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Muscle ultrasound is a useful tool in the diagnosis of neuromuscular disorders, as these disorders result in muscle atrophy and intramuscular fibrosis and fatty infiltration, which can be visualized with ultrasound. Several prospective studies have reported high sensitivities and specificities in the detection of neuromuscular disorders. Although not investigated in large series of patients, different neuromuscular disorders tend to show specific changes on muscle ultrasound, which can be helpful in differential diagnosis. For example, Duchenne muscular dystrophy results in a severe, homogeneous increase of muscle echo intensity with normal muscle thickness, whereas spinal muscular atrophy shows an inhomogeneous increase of echo intensity with severe atrophy. A major advantage of muscle ultrasound, compared to other imaging techniques, is its ability to visualize muscle movements, such as muscle contractions and fasciculations. This study reviews the possibilities and limitations of ultrasound in muscle imaging and its value as a diagnostic tool in neuromuscular disorders.

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“…Analyses of ultrasound images of muscle in clinical practice most commonly focus on qualitative features. 1,2,5,6 Quantitative measures of the degree of neuromuscular pathology, such as grayscale image (texture) analysis, have also been employed. 7,14,15,20 -22 However, most quantitative methods have limited reproducibility across different imaging systems, as they analyze images obtained without calibration.…”

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confidence: 99%

Calibrated quantitative ultrasound imaging of skeletal muscle using backscatter analysis

et al. 2008

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We evaluated the ability of an ultrasound method, which can characterize cardiac muscle pathology and has reliability across different imaging systems, to obtain calibrated quantitative estimates of backscatter of skeletal muscle. Our procedure utilized a tissue-mimicking phantom to establish a linear relationship between ultrasound grayscale and backscatter levels. We studied skeletal muscles of 82 adults: 45 controls and 37 patients with hereditary myopathies. We found that skeletal muscle ultrasound backscatter levels varied with probe orientation, age, and muscle contraction and pathology. Reliability was greater with the probe in longitudinal compared with transverse planes. Backscatter levels were higher in those >40 years of age, in muscle extension than flexion, and in myopathic patients than controls. Calibrated measurements of muscle backscatter have sensitivity and specificity in identifying and reliably measuring levels of skeletal muscle pathology.

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Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood

Cited by 70 publications

References 29 publications

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy

Muscle ultrasound in neuromuscular disorders

Calibrated quantitative ultrasound imaging of skeletal muscle using backscatter analysis

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