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X-linked dystonia-parkinsonism

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.
Uniprot Description A X-linked dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT3 is characterized by severe progressive torsion dystonia followed by parkinsonism. It has a well-defined pathology of extensive neuronal loss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to resemble that in Huntington disease.
Disease Ontology Description A focal dystonia characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in an SVA retrotransposon insertion in the intron of the TAF1 gene on chromosome Xq13.1.
Mondo Term and Equivalent IDs
MONDO:0010747:  X-linked dystonia-parkinsonism
GARD:0010533: 
MESH:C564048: 
NCIT:C126330: 
Orphanet:53351: 
SCTID:698279003: 
UMLS:C1839130: