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