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