Myotonic Dystrophy Type 1 Test
Updated: Apr 11, 2022
This is a screening test to analyze the genetic condition of pregnant mothers and women expecting pregnancy, to find out about the hereditary risk of their baby being affected with Type 1 myotonic dystrophy.
Many affected women themselves are unaware of their genetic condition.
If these women go through pregnancy and childbirth, there is higher risk of childbirth complications. With prior knowledge, a thorough observation of the mother is possible, and appropriate precautions can be taken.
What is Myotonic Dystorophy Type I (DM1)?
Myotonic Dystrophy Type 1, also known as the Steinert Disease, is one of the most commonly found hereditary neuromuscular disease. Worldwide prevalence is estimated to be 1 in 8000 people
It is characterized by the unstable expansion of CTG repeats in the 3'-UTR of the DMPK gene. If the number of CTG repeats in the untranslated region of DMPK 3’ is 35-49, the subject is a carrier with permutation.
Carrier may not show symptoms, but CTG repeat expansion gets passed on to future generation, and the number of repeat amplifies, so there is risk of passing DM1 on to his or her children.
As the number of CTG repeats increase, the more severe the symptoms and earlier the onset of the disease.
Affected Women: exposed to various complications, infections and preterm delivery during pregnancy and birth
Affected Fetus: there is higher risk of reduced fetal movement, premature birth , fetal displacement, respiratory difficulties etc.
The result can be:
1) Normal
No disease associated variants found
2) Premutation
The variant was detected in one of the 2 chromosomes (1 pair)
3) Full mutation
The variant was detected in all two chromosomes (1 pair)
For safety of the expecting mother and the fetus,
We recommend Myotonic Dystrophy Type 1 screening test.
Download the required documents through the link below!
This test can be performed upon request from a medical doctor.
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