Torsion dystonia-2 is an autosomal recessive neurologic disorder characterized by onset of symptoms in childhood or adolescence. 'Dystonia' is characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. DYT2 first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. DYT2 is slowly progressive but mild overall.
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members