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