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
|
Muscular hypotonia
Dystonia (any or unspecified) Motor delay Dyskinesia Dystonic tremor Dystonia, parkinsonism or dyskinesia Rigidity Developmental regression Dystonia, axial Dystonia, generalized Dystonia, limb Show more (+8) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
35
|
Yes
|
Developmental regression
Tremor (any or unspecified) Dystonia (any or unspecified) Dystonia, parkinsonism or dyskinesia Dystonic tremor Resting tremor Motor delay Dystonia, generalized Parkinsonism Bradykinesia Rigidity Show more (+8) |
n.a.
|