Autosomal Recessive Torsion Dystonia 2

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive inherited disorder caused by mutation in the HPCA gene. It begins in childhood or adolescence and is characterized by involuntary, sustained muscle contractions and torsions affecting initially distal limbs and later the neck, orofacial, and craniocervical regions.

**Synonyms:** - DYT2 - Dystonia Musculorum Deformans 2