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