Presentation description

Congenital Myotonic Dystrophy (CDM), the most severe form of myotonic dystrophy type 1, and is caused by an expanded CTG repeat in the DMPK gene. Long-term complications in CDM include neurodevelopmental delay, motor impairment, cognitive impairment, and an increased risk of ADHD and Autism Spectrum Disorder. The relationships between speech delay, autism traits, and Intellectual Disability were investigated in children with CDM.