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torsion dystonia 2

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.
Uniprot Description A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions.
Mondo Term and Equivalent IDs
MONDO:0009141:  torsion dystonia 2
GARD:0002028: 
MESH:C538006: 
NCIT:C123415: 
Orphanet:99657: 
UMLS:C1857093: