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torsion dystonia 4

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
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. DYT4 is characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait.
Mondo Term and Equivalent IDs
MONDO:0007493:  torsion dystonia 4
GARD:0010138: 
Orphanet:98805: 
SCTID:719276005: 
UMLS:C1851943: 
UMLS:C1860315: