Neonatal Screening for Muscular Dystrophy

  • R. Beckmann
  • J. M. Robert
  • H. Zellweger
  • L. Beubl
  • C. Dellamonica
  • G. Scheuerbrandt


DMD is one of the most frequent hereditary diseases in childhood. About every 3000th to 5000th family has either a boy with DMD or a girl with carrier properties (Zellweger and Antonik 1975; Beckmann and Scheuerbrandt 1976; Emery 1977; Moser 1977; Danieli et al. 1977). DMD carriers who normally do not show clinical signs of the disease transmit DMD to 50% of their male offspring by passing on to the next generation a mutated gene located on one of their X chromosomes. Because of this sex-linked recessive mode of inheritance, DMD affects only boys. Theoretically, one-third of the DMD cases are caused by new mutations (Haldane 1935; Gardner-Medwin 1970). The rate of mutations is probably equal in both sexes (Vogel 1977). Danieli et al. (1977) and Pickard et al. (1978) suggested a lower percentage of spontaneous cases. Emery (1977) has analyzed in detail the genetics of DMD.


Genetic Counseling Creatine Kinase Muscular Dystrophy Newborn Screening Duchenne Muscular Dystrophy 
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Copyright information

© Springer-Verlag Berlin Heidelberg 1980

Authors and Affiliations

  • R. Beckmann
  • J. M. Robert
  • H. Zellweger
  • L. Beubl
  • C. Dellamonica
  • G. Scheuerbrandt

There are no affiliations available

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