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

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

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


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 (Heck-matt) 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.

Original languageEnglish
Pages (from-to)418-423
Number of pages6
JournalMuscle and Nerve
Issue number3
StatePublished - Sep 2011


  • Acid maltase disease
  • Backscatter
  • Muscle
  • Pompe
  • Ultrasound


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