Screening for duchenne muscular dystrophy: An improved screening test for creatine kinase and its application in an infant screening program

1986 ◽  
Vol 9 (1) ◽  
pp. 11-23 ◽  
Author(s):  
Günter Scheuerbrandt ◽  
Arne Lundin ◽  
Timo Lövgren ◽  
Wilhelm Mortier
Keyword(s):  
Creatine Kinase ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Screening Test ◽  
Screening Program ◽  
Infant Screening

Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paper.

1983 ◽  
Vol 29 (1) ◽  
pp. 161-163 ◽  
Author(s):  
C Dellamonica ◽  
C Collombel ◽  
J Cotte ◽  
P Addis
Keyword(s):  
Creatine Kinase ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Blood Sample ◽  
Filter Paper ◽  
Whole Blood ◽  
Neonatal Screening ◽  
Screening Program ◽  
Improved Method ◽  
Increased Activity

Abstract Neonatal screening for Duchenne-type muscular dystrophy is greatly simplified by use of a new bioluminescence procedure for creatine kinase. The blood of newborn myopathic children consistently showed increased activity. The improved method permits the analysis from a dried sample of whole blood spotted on filter paper; it shows high correlation with existing procedures and is highly specific and precise. The use of the improved method in a screening program involving 158 000 newborns is reviewed. We find a prevalence of 1/5929 living eighth-day boys.

Dilution Effect on Serum Creatine Kinase in Carriers of Duchenne Muscular Dystrophy

1979 ◽  
Vol 16 (1-6) ◽  
pp. 54-55 ◽  
Author(s):  
A. C. Simpson ◽  
D. Holmes ◽  
R. J. T. Pennington
Keyword(s):  
Creatine Kinase ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Dilution Effect ◽  
Serum Creatine Kinase ◽  
Normal Female ◽  
Female Subjects

Dilution of serum before assay consistently increased the activity of serum creatine kinase both in normal female subjects and in carriers of Duchenne muscular dystrophy.

scholarly journals Effect of exercise on serum creatine kinase in carriers of Duchenne muscular dystrophy.

1982 ◽  
Vol 19 (1) ◽  
pp. 4-7 ◽  
Author(s):  
R F Gaines ◽  
S M Pueschel ◽  
E A Sassaman ◽  
J L Driscoll
Keyword(s):  
Creatine Kinase ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Serum Creatine Kinase

Detection of carriers of X-linked gene for Duchenne muscular dystrophy by levels of creatine kinase and pyruvate kinase

1983 ◽  
Vol 62 (1-3) ◽  
pp. 171-180 ◽  
Author(s):  
Daisy Neves Falcão-Conceição ◽  
Marcia Mattos Gonçalves-Pimentel ◽  
Marcia Leite Baptista ◽  
Sônia Ubatuba
Keyword(s):  
Creatine Kinase ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Pyruvate Kinase ◽  
Linked Gene

Diminished cap formation in lymphocytes from patients and carriers of Duchenne muscular dystrophy.

1977 ◽  
Vol 23 (12) ◽  
pp. 2341-2343 ◽  
Author(s):  
H L Verrill ◽  
N A Pickard ◽  
H D Gruemer
Keyword(s):  
Creatine Kinase ◽  
Genetic Counseling ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Laboratory ◽  
Carrier State ◽  
Childbearing Age ◽  
Plasma Creatine Kinase

Abstract Currently, the most useful clinical laboratory aid in establishing the carrier state of Duchenne muscular dystrophy is to determine creatine kinase (EC 2.7.3.2) activity in the plasma. The considerable overlap between plasma creatine kinase activities of controls and of carriers at the childbearing age contributes appreciable difficulty to genetic counseling of potential carriers. The consistent failure of lymphocyte cap formation in Duchenne muscular dystrophy patients and carriers in this study suggests a valuable tool for the confirmation of the carrier state.

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