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Experience with Screening Newborns for Duchenne Muscular Dystrophy in Wales BMJ 306:357-360, 3491993., Bradley,D.M.,et al, 1993 See this aricle in Pubmed Article Abstract Creatine kinase activity.Venous blood test to confirm positive result. Molecular genetic mutation analysis.Muscle biopsy and dystrophin analysis. Qualitative measure of satisfaction among affected families.34219 boys have been screened and nine affected families have been identified.Eight families were very positive about the programme.Three chose not to complete the diagnostic process.The programme should continue to permit a full evaluation of the issues involved and should serve as a model for other initiatives within the community for genetic disease.

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(click to filter results - removes previous filter) creatine phosphokinase(CPK)elevated genetic counselling genetic screening muscular dystrophy muscular dystrophy,Duchenne muscular dystrophy,Duchenne,neonatal screening muscular dystrophy,Duchenne,presymptomatic detection neonatal screening,genetic neurologic disorders

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