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dystonia 12

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.
Uniprot Description An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability.
Mondo Term and Equivalent IDs
MONDO:0007496:  dystonia 12
DOID:0090056: dystonia 12
GARD:0009628: 
MESH:C538001: 
Orphanet:71517: 
SCTID:702323008: 
UMLS:C1868681: