منابع مشابه
Screening for Duchenne muscular dystrophy.
Duchenne muscular dystrophy can be diagnosed with confidence before it is clinically apparent, and excluded with certainty where it may have seemed clinically obvious. This has been made possible by the demonstration of a grossly raised level of serum creatine phosphokinase (CPK) (Ebashi et al., 1959; Dreyfus, Schapira, and Demos, 1960). Highest levels (up to 100 times normal) are found early i...
متن کامل[Screening for Duchenne muscular dystrophy].
A programme was introduced in Wales to screen all 18 month old boys who were not yet walking for raised creatine kinase activity within the existing community developmental screening programme. During an 18 month period 25 229 such boys were identified of whom 19 930 (79%) had a Denver developmental screening test and 338 (1.7%) of these were not walking. Two hundred and five of those who did n...
متن کاملNewborn screening for Duchenne muscular dystrophy.
Duchenne muscular dystrophy (DMD) occurs in about 1 of 3,000 to 4,000 boys. Laboratory evidence of the disease, notably elevated creatinephosphokinase (CPK), is present already in the newborn infant. Unspecific CPK elevation occurs in the newborn as well, yet disappears shortly thereafter, while in DMD patients the CPK remains high throughout infancy. A new method to reliably determine CPK in a...
متن کاملDuchenne muscular dystrophy An overview of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) affects approximately 1 in 3,500 live male births [1]. It is caused by a large variety of mutations in the dystrophin gene. Because of these mutations, the body can no longer make dystrophin which is a protein important for stabilisation of the muscle cell during a contraction. Without dystrophin, muscle cells are damaged and slowly replaced by fat and scar tis...
متن کاملP164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1989
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.64.7.1017