Skeletal Muscle Ultrasonography in Children with a Dysfunction in the Oxidative Phosphorylation System

Pillen, Sigrid; Morava, Éva; Keimpema, Mieke van; Laak, H.J. ter; Vries, Maaike C. de; Rodenburg, Richard J.; Zwarts, Machiel J.

doi:10.1055/s-2006-924512

Cited by 30 publications

(29 citation statements)

References 30 publications

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“…For example, the sensitivity of ultrasound in detecting Duchenne muscular dystrophy (DMD) in clinically affected patients approaches 100%, 68 whereas mitochondrial myopathies will only be detected by ultrasound in 25%-45% of the symptomatic cases. 63 The diagnostic value of muscle ultrasound has not been investigated prospectively in other specific neuromuscular disorders, and only small series of patients have been reported. In children younger than 3 years of age, muscle ultrasound shows a lower sensitivity (approximately 75%).…”

Section: Ultrasound In Neuromuscular Disordersmentioning

confidence: 99%

“…In children younger than 3 years of age, muscle ultrasound shows a lower sensitivity (approximately 75%). 42,63,98 This is largely explained by the fact that structural changes within the muscle can still be minor in the early stages of a neuromuscular disorder. However, because the specificity of muscle ultrasound for the presence of a neuromuscular disorder is high in these children (approaching 100%), an abnormal ultrasound has major implications in directing further-more invasive-investigations.…”

Section: Ultrasound In Neuromuscular Disordersmentioning

confidence: 99%

“…Metabolic and mitochondrial disorders usually have normal or only slightly elevated muscle echo intensity. 24,42,63,67 Sensitivities of 25%-45% have been reported in children with mitochondrial myopathies, with even lower sensitivities in children below the age of 5 years. 63 Consequently, normal ultrasound findings do not exclude the presence of a mitochondrial myopathy.…”

Section: Ultrasound In Neuromuscular Disordersmentioning

confidence: 99%

“…24,42,63,67 Sensitivities of 25%-45% have been reported in children with mitochondrial myopathies, with even lower sensitivities in children below the age of 5 years. 63 Consequently, normal ultrasound findings do not exclude the presence of a mitochondrial myopathy. Higher sensitivities can probably be found in older children and adults with mitochondrial myopathies, as more structural muscle abnormalities are seen with increasing age.…”

Section: Ultrasound In Neuromuscular Disordersmentioning

confidence: 99%

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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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Section: Ultrasound In Neuromuscular Disordersmentioning

confidence: 99%

Section: Ultrasound In Neuromuscular Disordersmentioning

confidence: 99%

Section: Ultrasound In Neuromuscular Disordersmentioning

confidence: 99%

Section: Ultrasound In Neuromuscular Disordersmentioning

confidence: 99%

See 2 more Smart Citations

Muscle ultrasound in neuromuscular disorders

2008

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“…Other false negative ultrasound results were found in patients with a mitochondrial myopathy. This disorder is known for its sparse structural muscle changes, and the effect on muscle ultrasound was confirmed: only 25 to 46% of the children with a mitochondrial disorder showed a borderline-abnormal or abnormal ultrasound exam [26].…”

Section: Diagnostic Value Of Muscle Ultrasoundmentioning

confidence: 99%

Skeletal muscle ultrasound

Pillen

2010

Eur J Transl Myol

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Muscle ultrasound is a convenient technique to visualize normal and pathological muscle tissue as it is non-invasive and real-time. Neuromuscular disorders give rise to structural muscle changes that can be visualized with ultrasound: atrophy can be objectified by measuring muscle thickness, while infiltration of fat and fibrous tissue increase muscle echo intensity, i.e. the muscles become whiter on the ultrasound image. Muscle echo intensity need to be quantified to correct for age-related increase in echo intensity and differences between individual muscles. This can be done by gray scale analysis, a method that can be easily applied in daily clinical practice. Using this technique it is possible to detect neuromuscular disorders with predictive values of 90 percent. Only in young children and metabolic myopathies the sensitivity is lower. Ultrasound is a dynamic technique and therefore capable of visualizing normal and pathological muscle movements. Fasciculations can easily be differentiated from other muscle movements. Ultrasound appeared to be even more sensitive in detecting fasciculations compared to EMG and clinical observations, because it can visualize a large muscle area and deeper located muscles. With improving resolution and frame rate it has recently become clear that also smaller scale spontaneous muscle activity such as fibrillations can be detected by ultrasound. This opens the way to a broader use of muscle ultrasound in the diagnosis of peripheral nerve and muscle disorders.

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