Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia.
The authors analyzed muscle biopsy specimens of 104 patients with creatine kinase activity greater than 500 UI/L (normal 10 to 170 UI/L) without signs of muscle weakness. They achieved a definite or probable diagnosis in 55% of cases. The most frequently identified diseases were glycogen storage diseases, muscular dystrophies, and inflammatory myopathies. The probability of making a diagnosis was higher in children and when creatine kinase level was greater than 2,000 UI/L.
Fernandez
C
C
Laboratoire d'Anatomie Pathologique et Neuropathologie, Hôpital de la Timone Adultes, Marseille, France.
de Paula
A Maues
AM
Figarella-Branger
D
D
Krahn
M
M
Giorgi
R
R
Chabrol
B
B
Monfort
M-F
MF
Pouget
J
J
Pellissier
J-F
JF
D000293:Adolescent; D000328:Adult; D000368:Aged; D015415:Biomarkers; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D052283:Creatine Kinase, MM Form / Q000097:blood*; D016189:Dystrophin / Q000172:deficiency; D005221:Fatigue / Q000097:blood / Q000209:etiology; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000097:blood / Q000175:diagnosis; D006012:Glycogen Storage Disease Type V / Q000097:blood / Q000175:diagnosis; D006801:Humans; D008297:Male; D008875:Middle Aged; D009120:Muscle Cramp / Q000097:blood / Q000209:etiology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009468:Neuromuscular Diseases / Q000097:blood* / Q000175:diagnosis; D012189:Retrospective Studies
D015415:Biomarkers; D016189:Dystrophin; D052283:Creatine Kinase, MM Form