Test & specimen information
Myotonic dystrophy
Overview
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system and central nervous system. Myotonic dystrophy has three categories: mild, classic, and congenital. Congenital DM1 is the most severe form of DM1 and is characterised by hypotonia and severe generalised weakness at birth, often with respiratory insufficiency; intellectual disability is common. DM1 is caused by the alteration of the DMPK gene.
Test type
Polymerase chain reaction (PCR)
Genes tested
Turnaround time
Diagnostic: 8 weeks
Prenatal: 2-3 weeks
Cost
State funding for Victorian patients.