ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Dystonia, Diurnal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal 		0.010 Biomarker phenotype BEFREE This expands the wide and varied phenotypic manifestations of SCA 3, and highlights the observation that features suggestive of levodopa-responsive dystonia (DRD) such as focal dystonia, gait difficulty with diurnal fluctuation of symptoms, and a marked response to low doses of levodopa can be presenting features of SCA 3. 12873751 2003