The incidence of Duchenne muscular dystrophy in eastern Austria. The controversy regarding CK screening

Wien Klin Wochenschr. 1993;105(15):433-6.

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.

MeSH terms

  • Austria / epidemiology
  • Child
  • Child, Preschool
  • Creatine Kinase / blood
  • Cross-Sectional Studies
  • Genetic Counseling
  • Humans
  • Incidence
  • Infant
  • Infant, Newborn
  • Male
  • Muscular Dystrophies / epidemiology*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / prevention & control
  • Neonatal Screening
  • Polymorphism, Restriction Fragment Length

Substances

  • Creatine Kinase