title: The incidence of Duchenne muscular dystrophy in eastern Austria. The controversy regarding CK screening.
abstract: The incidence of Duchenne muscular dystrophy (DMD) in Eastern Austria was investigated. From 1968-1983 302,643 boys were born, 68 of whom were subsequently identified as having Duchenne muscular dystrophy. The overall incidence with respect to live male births is 1:4451 (22.5 x 10(-5)). The mean age of the children at the occurrence of the first symptoms was 3.1 (SD 1.1), at first presentation to a physician 4.8 (SD 2.0), and at diagnosis 5.5 (SD 1.7) years. DMD occurred in 56 families. These families had 73 boys with DMD, 5 of whom were born before or after the observation period. Thirteen families had two affected boys and two families even had three. In 4 families a second boy suffering from DMD was born although the diagnosis of DMD had already been established in another close male relative. If a newborn male screening system had been in function, 13 cases could possibly have been avoided. However, since in 3 cases the affected siblings were not both born within the observation period, they were excluded, leaving 10 cases. Hence, a prevention rate of 14.7% might have been achieved through creatine kinase (CK) screening and genetic counselling.
authors.affiliation: Department of Neuropsychiatry in Childhood and Adolescence, University of Vienna.
authors.forename: E
authors.initials: E
authors.lastname: Hauser
authors.forename: K
authors.initials: K
authors.lastname: Toifl
authors.forename: A
authors.initials: A
authors.lastname: Mad
authors.forename: R
authors.initials: R
authors.lastname: Bittner
mesh_terms: D001317:Austria / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D003430:Cross-Sectional Studies; D005817:Genetic Counseling; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000453:epidemiology* / Q000235:genetics / Q000517:prevention & control; D015997:Neonatal Screening; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D003402:Creatine Kinase