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.
Rigidity Parkinsonism Oculogyric crisis Developmental delay Dyskinesia Hypotonia Hyperreflexia Delayed motor development Show more (+6) |
Oculogyric crisis
|
|
Yes
|
♂
|
A
|
TWN
|
0
|
13
|
No
|
Hypotonia
Hyperreflexia Delayed motor development Parkinsonism Developmental delay Tremor (any or unspecified) Rigidity Show more (+4) |
Tremor (any or unspecified)
|
|
Yes
|
♀
|
A
|
TWN
|
0
|
3
|
No
|
Autonomic sign/sympt.
Dystonia (any or unspecified) Parkinsonism Dystonia/Parkinsonism Hypotonia Oculogyric crisis Rigidity Delayed motor development Hyperreflexia Developmental delay Dyskinesia Show more (+8) |
Oculogyric crisis
|
|
Yes
|
♂
|
A
|
TWN
|
0
|
7
|
No
|
Diurnal fluctuations
Hyperreflexia Developmental regression Rigidity Delayed motor development Hypotonia Dystonia/Parkinsonism Autonomic sign/sympt. Tremor (any or unspecified) Dyskinesia Developmental delay Parkinsonism Upper limb dystonia Dystonia, limb Dystonia (any or unspecified) Dystonia, cervical Bradykinesia Show more (+14) |
Hypotonia
Tremor (any or unspecified) Developmental delay |
|
Yes
|
♀
|
A
|
TWN
|
0
|
12
|
n.a.
|
Decreased body weight
Sleep disorder Postural instability Short stature Tremor (any or unspecified) Developmental regression Dystonia/Parkinsonism Autonomic sign/sympt. Hypotonia Developmental delay Oculogyric crisis Dyskinesia Delayed motor development Gait difficulties Rigidity Bradykinesia Residual motor signs Parkinsonism Dystonia (any or unspecified) Hyperreflexia Show more (+17) |
Tremor (any or unspecified)
Oculogyric crisis |
|
Yes
|
♀
|
A
|
TWN
|
0
|
8
|
No
|
Rigidity
Developmental delay Autonomic sign/sympt. Oculogyric crisis Parkinsonism Hypotonia Delayed motor development Tremor (any or unspecified) Hyperreflexia Show more (+6) |
Oculogyric crisis
Tremor (any or unspecified) |