Kurian, 2011: Overview of all reported DYT/PARK-SLC6A3 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
TUR
|
0
|
15
|
No
|
Dystonia, arm
Dystonia, limb Dystonia, generalized Spasticity Motor delay Dystonia, parkinsonism or dyskinesia Dystonia, oromandibular Rigidity Resting tremor Dystonic crisis Dystonia (any or unspecified) Chorea Dystonia, foot Parkinsonism Ocular flutter Slow saccades Saccade initiation failure Bradykinesia Tremor (any or unspecified) Anarthria Hyperreflexia Show more (+18) |
Parkinsonism
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
2
|
No
|
Dystonia (any or unspecified)
Saccade initiation failure Dystonia, oromandibular Ocular flutter Dyskinesia, orolingual Motor delay Dystonia, generalized Muscular hypotonia Chorea Dystonia, parkinsonism or dyskinesia Slow saccades Anarthria Parkinsonism Show more (+10) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
2
|
No
|
Motor delay
Dystonia, foot Muscular hypotonia Dystonia, limb Parkinsonism Dyskinesia, orolingual Dystonia (any or unspecified) Dystonia, generalized Ocular flutter Bradykinesia Anarthria Dystonia, hand Dystonia, parkinsonism or dyskinesia Dystonic crisis Dystonia, oromandibular Show more (+12) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
6
|
No
|
Anarthria
Motor delay Spasticity Dystonia, parkinsonism or dyskinesia Bradykinesia Dystonia, foot Parkinsonism Resting tremor Hyperreflexia Dystonia (any or unspecified) Muscular hypotonia Tremor (any or unspecified) Dystonia, generalized Dystonic crisis Dyskinesia Ocular flutter Dystonia, oromandibular Show more (+14) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
16
|
No
|
Dystonic crisis
Bradykinesia Dystonia, limb Dyskinesia, orolingual Dystonia, generalized Dystonia, parkinsonism or dyskinesia Dystonia, hand Dystonia, oromandibular Anarthria Chorea Hyperreflexia Parkinsonism Dystonia, foot Dystonia, arm Ocular flutter Dystonia (any or unspecified) Muscular hypotonia Motor delay Slow saccades Spasticity Resting tremor Tremor (any or unspecified) Saccade initiation failure Show more (+20) |
Parkinsonism
Muscular hypotonia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
4
|
No
|
Bradykinesia
Dystonia, generalized Dystonia, oromandibular Dystonia, parkinsonism or dyskinesia Motor delay Anarthria Dystonic crisis Dyskinesia Dystonia (any or unspecified) Dystonia, foot Parkinsonism Show more (+8) |
n.a.
|