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GENATLAS PHENOTYPE

last update : 18-01-2017

Symbol	DYTOABG
Location	1p35.3
Name	dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Other name(s)	dystonia 29
Corresponding gene	MECR
Other symbol(s)	DYT29
Main clinical features	neurologic disorder characterized by onset of involuntary movements in the first decade of life; optic atrophy develops around the same time or slightly later; severity is variable mildly delayed motor development, and variable features included facial dystonia, lower limp spasticity with hyperreflexia, myoclonus, chorea, dyskinesias, dysarthria, and dysphagia brain imaging shows abnormalities in the basal ganglia
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)