Myotonic muscular dystrophy
Myotonic dystrophy refers to a group of progressive multi-system genetic disorders that affect primarily muscle function, but can also affect other organs such as the heart, eye and endocrine system.
There are currently two clinically and molecularly defined forms of myotonic dystrophy:
- myotonic dystrophy type 1 (DM1) (Steinert disease)
- myotonic dystrophy type 2 (DM2) (proximal myotonic myopathy)
Epidemiology
The estimated incidence is ~1:8,000 individuals.