Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comparative Study
. 2011 Sep;44(3):418-23.
doi: 10.1002/mus.22088. Epub 2011 Jul 13.

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

Craig M Zaidman  1 , Elizabeth C Malkus, Catherine Siener, Julaine Florence, Alan Pestronk, Muhammad Al-Lozi
Affiliations
Comparative Study

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

Craig M Zaidman et al. Muscle Nerve. 2011 Sep.

Abstract

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

Methods: We compared skeletal muscle ultrasound images from adults with AMD (n = 10) to other myopathies (n = 81) and, in AMD, compared qualitative (Heckmatt) and quantitative (backscatter) ultrasound measurements with strength and function.

Results: Qualitative ultrasound was abnormal in at least one muscle in all AMD subjects. Ultrasound patterns specific for AMD were: normal triceps brachii despite abnormalities in elbow flexors (89% vs. 17%, P < 0.0001); focal abnormalities affecting deep more than superficial biceps brachii (40% vs. 4%, P = 0.002); and more severe involvement of vastus intermedius than rectus femoris (40 vs. 11%, P = 0.03). In AMD, both qualitative (Heckmatt) and quantitative (backscatter) ultrasound measures increased with decreasing strength and function.

Conclusions: Muscle ultrasound identifies the presence and specific patterns of AMD pathology, measures disease severity, and can help in the diagnosis of AMD.

PubMed Disclaimer

Figures

Figure 1
Figure 1. Qualitative ultrasound assessment of skeletal muscle pathology using Heckmatt’s rating scale
Normal (grade I) ultrasound appearance of the biceps brachii and brachialis shows predominantly dark muscle (M) bordered by subcutaneous fat (SC) and a bright, distinct bone reflection (B). Grade II: increased signal in the biceps brachii and brachialis with preserved bone reflection. Grade III: moderately increased signal and reduced bone reflection. Grade IV: markedly increased signal and absent bone reflection.
Figure 2
Figure 2. Patterns of Muscle Pathology on Ultrasound in Acid Maltase Disease
Ultrasound of the biceps brachii and brachialis (Row 1), triceps brachii (Row 2) and rectus femoris and vastus intermedius (Row 3) is shown for four patients with acid-maltase disease (AMD) aged 45–63 years and a 49 year-old woman with limb-girdle muscular dystrophy (LGMD). In AMD patients, there is sparing of the triceps brachii compared to the biceps brachii (patients 1–4), sparing of the superficial portion of the biceps brachii (arrows, patients 1 and 2), and sparing of the rectus femoris (arrowhead) compared to the vastus intermedius (*, patients 1, 2, and 4). In contrast, in LGMD there is more diffuse, homogenous involvement of the proximal arm and leg muscles.
Figure 3
Figure 3. Ultrasound in adults with AMD: Relations to Strength
Elbow flexion strength (top, expressed as a percent of normal) decreased with both higher quantitative (cMB, rs=−0.8, p=0.008) and qualitative (Heckmatt rating, rs=−0.8, p=0.004) ultrasound measures of muscle pathology in the elbow flexors. Knee extension strength decreased with higher Heckmatt ratings (rs=−0.9, p=0.001) but not cMB levels (rs =−0.4, p=0.2) of the rectus femoris. Compared to the elbow flexors, ultrasound measurements of the rectus femoris were relatively insensitive to changes in strength. For example, five subjects had a Heckmatt rating of two despite differences in knee extension strength from 48 to 13% of normal.
See this image and copyright information in PMC

References

    1. Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom WN, Codd WJ, Hanna B, Alcabes P, Raben N, Plotz P. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. 1998;79:69–72. - PubMed
    1. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009;40:149–160. - PubMed
    1. Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, Van der Ploeg AT. Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients. Brain. 2005;128:671–677. - PubMed
    1. Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, van der Ploeg AT. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol. 2005;252:875–884. - PubMed
    1. van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010;362:1396–1406. - PubMed

Publication types