Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
권호 표지
DOI QR코드

DOI QR Code

Myotonic dystrophy diagnosed during the perinatal period: A case series report

  • Shin, You Jung (Department of Obstetrics and Gynaecology, Hankook General Hospital) ;
  • Kim, Do Jin (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) ;
  • Park, So Yeon (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) ;
  • Chung, Jin Hoon (Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynaecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) ;
  • Lee, Yeon Kyung (Department of Pediatrics, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) ;
  • Ryu, Hyun Mee (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine)
  • Received : 2016.10.25
  • Accepted : 2016.12.12
  • Published : 2016.12.31
Download PDF
⟨ Previous Next ⟩

Abstract

Congenital myotonic dystrophy (CMD) which is transmitted in an autosomal-dominant manner, can also be observed in newborns born to asymptomatic parents who have a myotonic dystrophy type 1 or premutation allele, especially from the mother. A mother with myotonic dystrophy could be subfertile and the pregnancy could be complicated with the risk of a preterm birth. Newborns with CMD may demonstrate symptoms such as hypotonia and poor motor activity, as well as respiratory and feeding difficulties. Additionally, CMD has a high mortality rate at birth. Detection of the signs and symptoms during pregnancy is helpful for a prenatal diagnosis of CMD in cases where the family history is not known.

Keywords

References

  1. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992;69:385.
  2. Harris S, Moncrieff C, Johnson K. Myotonic dystrophy: will the real gene please step forward! Hum Mol Genet. 1996;5:1417-23. https://doi.org/10.1093/hmg/5.Supplement_1.1417
  3. Reardon W, Newcombe R, Fenton I, Sibert J, Harper PS. The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. Arch Dis Child 1993;68:177-81. https://doi.org/10.1136/adc.68.2.177
  4. Sarnat HB, O'Connor T, Byrne PA. Clinical effects of myotonic dystrophy on pregnancy and the neonate. Arch Neurol 1976;33:459-65. https://doi.org/10.1001/archneur.1976.00500070001001
  5. Webb DA. The hazards of pregnancy in myotonic muscular dystrophy. Mater Med Pol 1979;11:394-7.
  6. Schild RL, Plath H, Hofstaetter C, Brenner R, Mann E, Mundegar RR, et al. Polyhydramnios: an association with congenital myotonic dystrophy. J Obstet Gynaecol 1998;18:484-5. https://doi.org/10.1080/01443619866877
  7. Zaki M, Boyd PA, Impey L, Roberts A, Chamberlain P. Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome. Ultrasound Obstet Gynecol 2007;29:284-8. https://doi.org/10.1002/uog.3859
  8. Mashiach R, Rimon E, Achiron R. Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. Ultrasound Obstet Gynecol 2002;20:312-3. https://doi.org/10.1046/j.1469-0705.2002.00785.x
  9. Levine AB, Eddleman KA, Chitkara U, Willner JP, Vosatka RJ, Berkowitz RL. Congenital myotonic dystrophy: an often unsuspected cause of severe polyhydramnios. Prenat Diagn 1991;11:111-5. https://doi.org/10.1002/pd.1970110206
  10. Spranger M, Spranger S, Tischendorf M, Meinck HM, Cremer M. Myotonic dystrophy. The role of large triplet repeat length in the development of mental retardation. Arch Neurol 1997;54:251-4. https://doi.org/10.1001/archneur.1997.00550150017009
  11. Ashizawa T. Myotonic dystrophy as a brain disorder. Arch Neurol 1998;55:291-3. https://doi.org/10.1001/archneur.55.3.291
  12. Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. J Neurol Neurosurg Psychiatry 2010;81:358-67. https://doi.org/10.1136/jnnp.2008.158261
  13. Jansen G, Willems P, Coerwinkel M, Nillesen W, Smeets H, Vits L, et al. Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet 1994;54:575-85.
  14. Kakourou G, Dhanjal S, Mamas T, Serhal P, Delhanty JD, SenGupta SB. Modification of the triplet repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: application in preimplantation genetic diagnosis. Fertil Steril 2010;94:1674-9. https://doi.org/10.1016/j.fertnstert.2009.10.050