A rare neurometabolic disorder with main features described as childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa and that may be associated with parkinsonism at an older age. Inherited in an autosomal dominant manner, but due to gender-based incomplete penetrance, not everyone with a mutation will display the disease phenotype.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3303653015
Autosomal dominant dopa responsive dystonia
Active
Synonym
false
false
3303654014
Autosomal dominant Segawa syndrome
Active
Synonym
false
false
3303655010
Hereditary progressive dystonia with marked diurnal fluctuation