Anticipation in myotonic dystrophy: fact or fiction?

  title={Anticipation in myotonic dystrophy: fact or fiction?},
  author={Chris J H{\"o}weler and Herman F. M. Busch and Joep P. M. Geraedts and Martinus F. Niermeijer and A M Staal},
  journal={Brain : a journal of neurology},
  volume={112 ( Pt 3)},
In 1918 Fleischer reported that after transmission from one generation to the next, myotonic dystrophy has an earlier onset and is more severe. The hypothesis put forward by Penrose in 1948 that 'anticipation' is caused by bias of index case selection was based on theoretical arguments only and has not been supported by clinical observations. This hypothesis was tested in a clinical and genetic study of 14 families with myotonic dystrophy. Excluding index patients, an earlier onset in the child… CONTINUE READING