Myotonic dystrophy type 1 (DM1) or Steinert's myotonic dystrophy is a genetic disease that is transmitted to offspring in an autosomal dominant inheritance pattern. Therefore, there is a 50% chance that a person affected by this disease will transmit it to his or her children.
The gene that is altered in DM1 is the DMPK gene. While healthy individuals have less than 35 repeats of the CTG triplet in this gene, individuals with the genetic alteration of Steinert's disease have from 50 to more than a thousand repeats of this triplet.
Read the full article on: Steinert’s myotonic dystrophy – Symptoms, diagnosis and treatment ( 31).
By Silvia Azaña Gutiérrez B.Sc., M.Sc. (embryologist), Zaira Salvador B.Sc., M.Sc. (embryologist) and Cristina Algarra Goosman B.Sc., M.Sc. (psychologist).
Last Update: 01/19/2022