Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UK

Neuromuscul Disord. 2008 Feb;18(2):131-6. doi: 10.1016/j.nmd.2007.10.002. Epub 2007 Nov 28.

Abstract

Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder caused by expansion of a trinucleotide repeat in a non-coding region of DMPK. Prenatal diagnosis (PND) is available; however, the decision to terminate affected pregnancies is difficult as the extent of disability is hard to predict from the size of the expansion. In preimplantation genetic diagnosis (PGD) genetic analysis is carried out before the establishment of pregnancy. This paper reviews the largest number of cycles of PGD for DM1 in the UK indicating that PGD is a practical option for affected couples.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Fertilization in Vitro
  • Genetic Testing*
  • Humans
  • Male
  • Myotonic Dystrophy / diagnosis*
  • Myotonic Dystrophy / genetics*
  • Myotonin-Protein Kinase
  • Polymerase Chain Reaction
  • Preimplantation Diagnosis*
  • Protein Serine-Threonine Kinases / genetics*
  • Trinucleotide Repeats
  • United Kingdom

Substances

  • DMPK protein, human
  • Myotonin-Protein Kinase
  • Protein Serine-Threonine Kinases