Ng, 2014: 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
|
♂
|
I
|
PAK
|
11
|
26
|
Yes
|
Dystonia, craniofacial
Tremor, head Dystonia (any or unspecified) Tremor (any or unspecified) Developmental regression Dystonia, focal Dystonia, cervical Dystonia, parkinsonism or dyskinesia Show more (+5) |
Tremor (any or unspecified)
Dystonia, cervical |
|
Yes
|
♀
|
O
|
n.a.
|
0
|
3
|
No
|
Dystonia, generalized
Muscular hypotonia Dystonia (any or unspecified) Parkinsonism Rigidity Developmental regression Dyskinesia Motor delay Bradykinesia Dystonic tremor Dystonia, parkinsonism or dyskinesia Show more (+8) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
0
|
7
|
No
|
Dystonic tremor
Dyskinesia, orolingual Chorea Muscular hypotonia Bradykinesia Dystonia, generalized Developmental regression Dystonia (any or unspecified) Rigidity Parkinsonism Dystonia, parkinsonism or dyskinesia Motor delay Dyskinesia Show more (+10) |
Parkinsonism
|
|
No
|
♂
|
I
|
PAK
|
11
|
16
|
Yes
|
Dystonia, parkinsonism or dyskinesia
Tremor (any or unspecified) Tremor, head Tremor, limb Developmental regression Show more (+2) |
Tremor (any or unspecified)
|
|
Yes
|
♂
|
I
|
PAK
|
11
|
28
|
Yes
|
Dystonia, parkinsonism or dyskinesia
Postural instability Parkinsonism Ocular flutter Resting tremor Developmental regression Tremor (any or unspecified) Bradykinesia Show more (+5) |
Tremor (any or unspecified)
|
|
Yes
|
♂
|
C
|
n.a.
|
0
|
4
|
No
|
Dystonia, generalized
Parkinsonism Dyskinesia Motor delay Dystonia, parkinsonism or dyskinesia Developmental regression Rigidity Bradykinesia Dystonia (any or unspecified) Dystonic tremor Muscular hypotonia Show more (+8) |
n.a.
|