Chi, 2012: Overview of all reported DYT/PARK-TH patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
TWN
|
0
|
4
|
No
|
Autonomic sign/sympt.
Developmental delay Parkinsonism Delayed motor development Rigidity Hyperreflexia Dyskinesia Hypotonia Oculogyric crisis Show more (+6) |
Oculogyric crisis
|
|
Yes
|
♂
|
A
|
TWN
|
0
|
13
|
No
|
Rigidity
Hypotonia Hyperreflexia Delayed motor development Tremor (any or unspecified) Parkinsonism Developmental delay Show more (+4) |
Tremor (any or unspecified)
|
|
Yes
|
♀
|
A
|
TWN
|
0
|
3
|
No
|
Dyskinesia
Developmental delay Hypotonia Dystonia (any or unspecified) Autonomic sign/sympt. Dystonia/Parkinsonism Oculogyric crisis Parkinsonism Hyperreflexia Rigidity Delayed motor development Show more (+8) |
Oculogyric crisis
|
|
Yes
|
♂
|
A
|
TWN
|
0
|
7
|
No
|
Hypotonia
Rigidity Autonomic sign/sympt. Tremor (any or unspecified) Dystonia (any or unspecified) Dystonia/Parkinsonism Delayed motor development Bradykinesia Parkinsonism Dyskinesia Dystonia, limb Developmental delay Hyperreflexia Dystonia, cervical Diurnal fluctuations Developmental regression Upper limb dystonia Show more (+14) |
Hypotonia
Tremor (any or unspecified) Developmental delay |
|
Yes
|
♀
|
A
|
TWN
|
0
|
12
|
n.a.
|
Parkinsonism
Autonomic sign/sympt. Postural instability Hypotonia Tremor (any or unspecified) Dystonia (any or unspecified) Rigidity Decreased body weight Sleep disorder Short stature Developmental delay Oculogyric crisis Dystonia/Parkinsonism Hyperreflexia Developmental regression Bradykinesia Gait difficulties Delayed motor development Dyskinesia Residual motor signs Show more (+17) |
Tremor (any or unspecified)
Oculogyric crisis |
|
Yes
|
♀
|
A
|
TWN
|
0
|
8
|
No
|
Oculogyric crisis
Delayed motor development Tremor (any or unspecified) Parkinsonism Rigidity Hypotonia Developmental delay Hyperreflexia Autonomic sign/sympt. Show more (+6) |
Oculogyric crisis
Tremor (any or unspecified) |