Kurian, 2009: 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
|
0
|
4
|
Yes
|
Muscular hypotonia
Rigidity Motor delay Dystonia, parkinsonism or dyskinesia Bradykinesia Resting tremor Tremor (any or unspecified) Developmental delay/intellectual disability Dystonia (any or unspecified) Hyperreflexia Spasticity Parkinsonism Show more (+9) |
Muscular hypotonia
Parkinsonism |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
11
|
No
|
Muscular hypotonia
Dystonic crisis Developmental delay/intellectual disability Spasticity Chorea Hyperreflexia Dystonia, foot Ocular flutter Dyskinesia, orolingual Resting tremor Dystonia, parkinsonism or dyskinesia Tremor (any or unspecified) Rigidity Saccade initiation failure Slow saccades Dystonia (any or unspecified) Dystonia, arm Bradykinesia Motor delay Parkinsonism Dystonia, limb Show more (+18) |
Muscular hypotonia
Parkinsonism |
|
Yes
|
♂
|
I
|
PAK
|
0
|
6
|
Yes
|
Rigidity
Hyperreflexia Dystonia, limb Dystonia (any or unspecified) Bradykinesia Dystonia, arm Spasticity Developmental delay/intellectual disability Resting tremor Muscular hypotonia Dystonia, parkinsonism or dyskinesia Motor delay Parkinsonism Dyskinesia, orolingual Tremor (any or unspecified) Show more (+12) |
Muscular hypotonia
Parkinsonism |