Puffenberger, 2012: Overview of all reported DYT/PARK-SLC6A3 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♀
C
n.a.
0
10
Yes
Developmental regression
Muscular hypotonia
Motor delay
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, axial
Rigidity
Dyskinesia
Dystonia, parkinsonism or dyskinesia
Dystonic tremor
Show more (+8)
n.a.
Yes
♀
C
n.a.
0
35
Yes
Dystonia (any or unspecified)
Dystonia, parkinsonism or dyskinesia
Developmental regression
Parkinsonism
Bradykinesia
Dystonic tremor
Rigidity
Motor delay
Tremor (any or unspecified)
Dystonia, generalized
Resting tremor
Show more (+8)
n.a.