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