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GENATLAS PHENOTYPE

last update : 21-01-2009

Symbol	DYT12
Location	19q13
HGNC id	3100
Name	dystonia 12
Other name(s)	dystonia-parkinsonoism rapid-onset
Corresponding gene	ATP1A3
Other symbol(s)	RODP
Main clinical features	dystonia-parkinsonism characterized by an unusually rapid evolution of signs and symptoms rapid-onset between 14 and 45 years of age, very slow progressive, with dysarthria, dysphagia, bradykinesia, and dystonic posturing incomplete penetrance
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	ATPase, Na+/K+ transporting, alpha 3 polypeptide

Remark(s)

genetic testing for the ATP1A3 gene is recommended when abrupt onset, rostrocaudal gradient and prominent bulbar findings are present (Brashear 2007)