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