/torsion dystonia 2

torsion dystonia 2

Rare Disease

MONDO:0009141

Also Known As

DYT2HPCA dystonic disorderautosomal recessive torsion dystonia 2dystonic disorder caused by mutation in HPCAtorsion dystonia type 2dystonia 2, torsion, autosomal recessivedystonia musculorum deformans type 2torsion dystonia 2, autosomal recessive type

Definition

A dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.