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