Dystrophia Myotonica 1

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts.

**Synonyms:** - Myotonic Dystrophy 1 - Steinert Disease - Steinert Myotonic Dystrophy Syndrome - Steinert Syndrome