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

Muscle and Nerve

Volumn 44, Issue 3, 2011, Pages 418-423

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

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Acid maltase disease; Backscatter; Muscle; Pompe; Ultrasound

Indexed keywords

ALPHA GLUCOSIDASE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FLEXOR MUSCLE; GLUCAN 1,4 ALPHA GLUCOSIDASE DEFICIENCY; HUMAN; MALE; MYOPATHY; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; SKELETAL MUSCLE; TRICEPS BRACHII MUSCLE; ULTRASOUND; VASTUS MEDIALIS MUSCLE;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; DIAGNOSIS, DIFFERENTIAL; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 80052046945     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.22088     Document Type: Article

References (26)

1. Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom WN, et al. 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.
2. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve 2009;40:149-160.
3. Hagemans ML, Winkel LP, van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005;128:671-677.
4. Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, et al. The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol 2005;252:875-884.
5. van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010;362:1396-1406.
6. Pichiecchio A, Uggetti C, Ravaglia S, Egitto MG, Rossi M, Sandrini G, et al. Muscle MRI in adult-onset acid maltase deficiency. Neuro-muscul Disord 2004;14:51-55.
7. Dlamini N, Jan W, Norwood F, Sheehan J, Spahr R, Al-Sarraj S, et al. Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease). Neuromuscul Disord 2008;18:408-409.
8. de Jager AE, van der Vliet TM, van der Ree TC, Oosterink BJ, Loonen MC. Muscle computed tomography in adult-onset acid malt-ase deficiency. Muscle Nerve 1998;21:398-400.
9. Heckmatt JZ, Leeman S, Dubowitz V. Ultrasound imaging in the diagnosis of muscle disease. J Pediatr 1982;101:656-660.
10. Heckmatt J, Rodillo E, Doherty M, Willson K, Leeman S. Quantitative sonography of muscle. J Child Neurol 1989;4(suppl):S101-S106.
11. Pillen S, Verrips A, van Alfen N, Arts IM, Sie LT, Zwarts MJ. Quantitative skeletal muscle ultrasound: diagnostic value in childhood neu-romuscular disease. Neuromuscul Disord 2007;17:509-516.
12. Pillen S, van Keimpema M, Nievelstein RA, Verrips A, van Kruijsbergen-Raijmann W, Zwarts MJ. Skeletal muscle ultrasonography: visual versus quantitative evaluation. Ultrasound Med Biol 2006;32:1315-1321.
13. Maurits NM, Bollen AE, Windhausen A, De Jager AE, van der Hoeven JH. Muscle ultrasound analysis: normal values and differentiation between myopathies and neuropathies. Ultrasound Med Biol 2003;29:215-225.
14. Zaidman CM, Connolly AM, Malkus EC, Florence JM, Pestronk A. Quantitative ultrasound using backscatter analysis in Duchenne and Becker muscular dystrophy. Neuromuscul Disord 2010;20:805-809.
15. Brockmann K, Becker P, Schreiber G, Neubert K, Brunner E, Bonne-mann C. Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood. Neuromuscul Disord 2007;17:517-523.
16. Zaidman CM, Holland MR, Anderson CC, Pestronk A. Calibrated quantitative ultrasound imaging of skeletal muscle using backscatter analysis. Muscle Nerve 2008;38:893-898.
17. Zuberi SM, Matta N, Nawaz S, Stephenson JB, McWilliam RC, Holl-man A. Muscle ultrasound in the assessment of suspected neuromus-cular disease in childhood. Neuromuscul Disord 1999;9:203-207.
18. Hagemans ML, Laforet P, Hop WJ, Merkies IS, van Doorn PA, Reuser AJ, et al. Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale. Neuromuscul Disord 2007;17:537-543.
19. Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA, Reuser AJ, van Doorn PA, et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 2004;63:1688-1692.
20. Hagemans ML, van Schie SP, Janssens AC, van Doorn PA, Reuser AJ, van der Ploeg AT. Fatigue: an important feature of late-onset Pompe disease. J Neurol 2007;254:941-945.
21. Florence JM, Pandya S, King WM, Robison JD, Baty J, Miller JP, et al. Intrarater reliability of manual muscle test (Medical Research Council scale) grades in Duchenne's muscular dystrophy. Phys Ther 1992; 72:115-122.
22. Muscular weakness assessment: use of normal isometric strength data. The National Isometric Muscle Strength (NIMS) Database Consortium. Arch Phys Med Rehabil 1996;77:1251-1255.
23. Engel AG, Gomez MR, Seybold ME, Lambert EH. The spectrum and diagnosis of acid maltase deficiency. Neurology 1973;23:95-106.
24. Pestronk A. Myopathy & neuromuscular junction disorders: differential diagnosis. Neuromuscular Disease Center: http://neuromuscularwus-tledu/musdist/proxarmhtml#efweak (accessed November 2010).
25. Pillen S, Tak RO, Zwarts MJ, Lammens MM, Verrijp KN, Arts IM, et al. Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity. Ultrasound Med Biol 2009;35:443-446.
26. Pillen S, Arts IM, Zwarts MJ. Muscle ultrasound in neuromuscular disorders. Muscle Nerve 2008;37:679-693.