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
Autonomic sign/sympt.
Parkinsonism
Hypotonia
Delayed motor development
Hyperreflexia
Dyskinesia
Developmental delay
Rigidity
Oculogyric crisis
Show more (+6)
Oculogyric crisis
p.Arg153*: hom
Yes
♂
A
TWN
0
13
No
Delayed motor development
Tremor (any or unspecified)
Hyperreflexia
Parkinsonism
Rigidity
Developmental delay
Hypotonia
Show more (+4)
Tremor (any or unspecified)
Yes
♀
A
TWN
0
3
No
Oculogyric crisis
Hyperreflexia
Hypotonia
Rigidity
Dyskinesia
Autonomic sign/sympt.
Delayed motor development
Dystonia (any or unspecified)
Developmental delay
Parkinsonism
Dystonia/Parkinsonism
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Oculogyric crisis
Yes
♂
A
TWN
0
7
No
Autonomic sign/sympt.
Upper limb dystonia
Developmental regression
Delayed motor development
Hypotonia
Parkinsonism
Tremor (any or unspecified)
Rigidity
Dyskinesia
Dystonia, limb
Developmental delay
Hyperreflexia
Dystonia/Parkinsonism
Bradykinesia
Dystonia (any or unspecified)
Diurnal fluctuations
Dystonia, cervical
Show more (+14)
Hypotonia
Tremor (any or unspecified)
Developmental delay
Yes
♀
A
TWN
0
12
n.a.
Rigidity
Dystonia (any or unspecified)
Oculogyric crisis
Decreased body weight
Developmental delay
Gait difficulties
Bradykinesia
Parkinsonism
Short stature
Delayed motor development
Hyperreflexia
Sleep disorder
Developmental regression
Dystonia/Parkinsonism
Dyskinesia
Tremor (any or unspecified)
Autonomic sign/sympt.
Hypotonia
Postural instability
Residual motor signs
Show more (+17)
Oculogyric crisis
Tremor (any or unspecified)
Yes
♀
A
TWN
0
8
No
Tremor (any or unspecified)
Hypotonia
Parkinsonism
Oculogyric crisis
Rigidity
Autonomic sign/sympt.
Delayed motor development
Developmental delay
Hyperreflexia
Show more (+6)
Tremor (any or unspecified)
Oculogyric crisis