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