Dystrophia Myotonica 2

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities.

**Synonyms:** - DM2 - Myotonic Dystrophy 2 - PROMM - Proximal Myotonic Myopathy - Ricker Syndrome