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GENATLAS PHENOTYPE

last update : 08-12-2009

Symbol	DYT3
Location	Xq13.1
HGNC id	3103
Name	dystonia 3, torsion
Other name(s)	X-linked dystonia-parkinsonism Filippino dystonia-Parkinsonism
Corresponding gene	TAF1
Other symbol(s)	XDP
Main clinical features	sustained muscle contractions causing twisting and repetitive movements or abnormal postures, with parkinsonism (Lubag), onset at 50 years(42-59), with atrophy of the caudate and putamen response to bilateral pallidal stimulation in any cases with with medically refractory symptoms (Evidente 2007)
Genetic determination	sex linked
Prevalence	5.24 in 100,000 on Panay Island, Philippines
Function/system disorder	neurology
Type	disease

Remark(s)

AFX1 and NRB1 excluded decreased expression levels of TAF1 and the dopamine receptor D2 gene (DRD2) in the caudate nucleus