TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Motor symptoms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		0.020 GeneticVariation phenotype BEFREE The DYT1 gene mutation is associated with a slowness in mental simulation of movements, independently from the presence of motor symptoms. 18571468 2008
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		0.020 Biomarker phenotype BEFREE In this video brief, we show that continuous bilateral stimulation of the globus pallidus internus produced sustained and marked improvements in the motor symptoms and functional disabilities of Japanese patients with DYT1-generalized dystonia. 16830314 2006