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
Dystonia, parkinsonism or dyskinesia
Dystonic tremor
Motor delay
Rigidity
Dystonia, generalized
Muscular hypotonia
Dystonia (any or unspecified)
Dystonia, limb
Dyskinesia
Dystonia, axial
Developmental regression
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n.a.
Yes
C
n.a.
0
35
Yes
Developmental regression
Dystonia, generalized
Dystonia (any or unspecified)
Rigidity
Motor delay
Parkinsonism
Tremor (any or unspecified)
Dystonia, parkinsonism or dyskinesia
Bradykinesia
Dystonic tremor
Resting tremor
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n.a.