How common is misdiagnosis in late-onset pompe disease

Muscle and Nerve

Volumn 45, Issue 2, 2012, Pages 301-302

  Hobson Webb, Lisa D ^a   Kishnani, Priya S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; BLOOD ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; EARLY DIAGNOSIS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LETTER; MALE; NEUROLOGIST; ONSET AGE; PRIORITY JOURNAL; SCREENING; UNITED STATES;

ADULT; AGE OF ONSET; DIAGNOSTIC ERRORS; DISEASE PROGRESSION; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; MIDDLE AGED; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84855854020     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.22296     Document Type: Letter

References (5)

1. AANEM. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve 2009;40:149-160.
2. Hobson-Webb LD, DeArmey S, Kishnani PK. The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings. Clin Neurophysiol 2011;122: 2312-2317.
3. Engel AG. Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 1968;91:435-462.
4. Barohn RJ, McVey AL, DiMauro S. Adult acid maltase deficiency. Muscle Nerve 1993;16:672-676.
5. Goldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, et al. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve 2009;40:32-36.