Qualitative and quantitative skeletal muscle ultrasound in late‐onset acid maltase deficiency

Zaidman, Craig M.; Malkus, Elizabeth C.; Siener, C.; Florence, Julaine; Pestronk, Alan; Al‐Lozi, Muhammad

doi:10.1002/mus.22088

Cited by 34 publications

(50 citation statements)

References 25 publications

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“…This is in contrast to former findings [11], including the cohort of the 2011 study [18], when a relative sparing of the rectus femoris was considered typical for Pompe disease. Our findings do not support the hypothesis that fast-twitch glycolytic fibers are more vulnerable than slow-twitch oxidative fibers in adult Pompe patients, which had been postulated before [25].…”

Section: Discussioncontrasting

confidence: 78%

“…Regarding the anatomical distribution of weakness and sonographic findings, triceps brachii (as described before [18]) showed generally much less sonographic abnormalities than the elbow flexors. Even in the most severely affected, bedridden patient in our cohort, triceps brachii was spared (Fig.…”

Section: Discussionmentioning

confidence: 98%

“…Computerized gray scale analysis of ultrasound pictures was described to indicate higher sensitivity and specificity in neuromuscular disorders [17,28] as well as in Pompe disease [18]. In our analysis this method correlated much less with clinical findings than the visual scale assessed by several independent investigators who were blinded to the clinical data.…”

Section: Discussionmentioning

confidence: 99%

“…The principal diagnostic value of muscle ultrasound to detect muscle pathology in symptomatic adults with Pompe disease has been shown previously [18]. In this study, a cohort of 15 adult patients was investigated to clarify if there is a specific anatomical distribution or sonographic pattern of changes suggestive for Pompe disease.…”

Section: Discussionmentioning

confidence: 99%

“…In 2011, a series of 10 adult Pompe patients has been examined by muscle ultrasound [18]. The purpose of our study is to evaluate the role of muscle ultrasound in a larger cohort of pediatric and adult Pompe patient in order to see if specific postulated patterns can be confirmed.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants

Vill

Scheßl

Teusch

et al. 2015

Neuromuscular Disorders

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Section: Discussioncontrasting

confidence: 78%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants

Vill

Scheßl

Teusch

et al. 2015

Neuromuscular Disorders

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Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

Young

Piraud

Goldstein

et al. 2012

American J of Med Genetics Pt C

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Defining disease severity in patients with Pompe disease is important for prognosis and monitoring the response to therapies. Current approaches include qualitative and quantitative assessments of the disease burden, and clinical measures of the impact of the disease on affected systems. The aims of this manuscript were to review a noninvasive urinary glucose tetrasaccharide biomarker of glycogen storage, and to discuss advances in imaging techniques for determining the disease burden in Pompe disease. The glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc(4) ), is a glycogen-derived limit dextrin that correlates with the extent of glycogen accumulation in skeletal muscle. As such, it is more useful than traditional biomarkers of tissue damage, such as CK and AST, for monitoring the response to enzyme replacement therapy in patients with Pompe disease. Glc(4) is also useful as an adjunctive diagnostic test for Pompe disease when performed in conjunction with acid alpha-glucosidase activity measurements. Review of clinical records of 208 patients evaluated for Pompe disease by this approach showed Glc(4) had 94% sensitivity and 84% specificity for Pompe disease. We propose Glc(4) is useful as an overall measure of disease burden, but does not provide information on the location and distribution of excess glycogen accumulation. In this manuscript we also review magnetic resonance spectroscopy and imaging techniques as alternative, noninvasive tools for quantifying glycogen and detailing changes, such as fibrofatty muscle degeneration, in specific muscle groups in Pompe disease. These techniques show promise as a means of monitoring disease progression and the response to treatment in Pompe disease. © 2012 Wiley Periodicals, Inc.

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Effect of Ultrasound‐Guided Hydrorelease of the Multifidus Muscle on Acute Low Back Pain

Kanamoto

Orita

Inage

et al. 2020

J of Ultrasound Medicine

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Objectives To examine improvement in acute low back pain (LBP) using ultrasound‐guided hydrorelease of the multifidus muscle. Methods This prognostic cohort study was conducted in a private clinic on samples of 75 patients with acute LBP diagnosed based on physical and imaging findings. Hydrorelease of the multifidus muscle was performed at the L4/5 level. The LBP visual analog scale (VAS) scores (cm) before and 5 minutes after hydrorelease were statistically evaluated. We defined improvement rate (%) as {LBP VAS scores (cm) immediately before hydrorelease – LBP VAS scores (cm) 5 minutes after hydrorelease} × 100 / LBP VAS scores (cm) immediately before hydrorelease and examined the correlation of the Heckmatt score and average age with the improvement rate. Results LBP VAS scores (cm) before and 5 minutes after hydrorelease were 7.19 ± 1.01 (mean ± SD) and 2.85 ± 1.25, respectively (p < 0.05). No significant correlations were noted between the LBP improvement rate and the Heckmatt score or age. There were no gender variations in the improvement rate. Conclusions Ultrasound‐guided hydrorelease of the multifidus muscle led to considerable LBP VAS score improvement at the outpatient level. The improvement rate showed no correlations with the Heckmatt score or age, and there were no significant gender variations in the improvement rate. Therefore, fatty degeneration of muscles and change in muscle echogenicity due to age and gender may not be associated with muscular LBP. These findings suggest that multifidus muscle hydrorelease could be useful in the diagnosis and treatment of acute LBP.

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Qualitative and quantitative skeletal muscle ultrasound in late‐onset acid maltase deficiency

Abstract: Introduction-Acid maltase deficiency (AMD) (Pompe disease) is an inherited myopathic disorder of glycogen degradation. Diagnosis is often delayed. Muscle ultrasound could improve diagnosis.

Cited by 34 publications

References 25 publications

Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants

Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

Effect of Ultrasound‐Guided Hydrorelease of the Multifidus Muscle on Acute Low Back Pain

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