Sonographic evaluations of the skeletal muscles in patients with Pompe disease

Chiu, Yi-Hsiang; Liao, Chun-Li; Chien, Yin‐Hsiu; Wu, Chueh-Hung; Özçakar, Levent

doi:10.1016/j.ejpn.2022.12.002

Cited by 3 publications

(1 citation statement)

References 25 publications

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“…Notably, involvement of the quadriceps was a key finding in both studies. Finally, an ultrasound study assessing echo heterogeneity also identified worsening muscle degeneration on ultrasound was correlated with worsening function [ 18 ]. However, our study focused on NBS-identified LOPD patients rather than a mix of symptomatic LOPD and IOPD patients.…”

Section: Discussionmentioning

confidence: 99%

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

Jackson

Case

Huggins

et al. 2023

Molecular Genetics and Metabolism Reports

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Section: Discussionmentioning

confidence: 99%

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

Jackson

Case

Huggins

et al. 2023

Molecular Genetics and Metabolism Reports

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Editorial Commentary on “Sonographic evaluations of the skeletal muscles in patients with Pompe disease” by Y.H. Chiu et al.

Papadimas

2023

European Journal of Paediatric Neurology

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Muscle ultrasound in myopathies

Vicino,

Veltsista,

van Alfen

2024

Current Opinion in Neurology

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Purpose of review This review highlights recent developments in the field of muscle ultrasound (MUS) for the diagnosis and follow up of muscle disorders. Recent findings The diagnostic screening capacity of quantitative grayscale analysis is still sufficient to assess children suspected of a neuromuscular disorder. A combination of visual and quantitative assessment is advised for optimal interpretation. MUS was more sensitive but less specific than MRI for detecting pathology in limb girdle dystrophies and inflammatory myopathies. New techniques such as shearwave elastography and artificial intelligence algorithms for automated image segmentation show promise but need further development for use in everyday practice. Muscle ultrasound has high correlations with clinical measures of function in skeletal and respiratory muscles and the orofacial region, in most of the myopathies and dystrophies studied. Over time, imaging changes precede changes in clinical status, making them attractive for biomarker use in trials. In Duchenne muscular dystrophy MUS was also responsive to the effects of steroid treatment. Summary Muscle ultrasound is a sensitive technique to diagnose and follow up of skeletal, facial and respiratory muscles in neuromuscular disorders. Its role is both complementary to and partially overlapping with that of MRI.

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Sonographic evaluations of the skeletal muscles in patients with Pompe disease

Cited by 3 publications

References 25 publications

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

Editorial Commentary on “Sonographic evaluations of the skeletal muscles in patients with Pompe disease” by Y.H. Chiu et al.

Muscle ultrasound in myopathies

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