Janssen, 2000: Overview of all reported DYT/PARK-TH patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
n.a.
0
9
n.a.
Developmental delay
Cognitive impairment
Bradykinesia
Gait difficulties
Intellectual developmental disorder
Rigidity
Parkinsonism
Myoclonus
Hypotonia
Lower limb dystonia
Hyperreflexia
Dystonia, limb
Upper limb dystonia
Dystonia/Parkinsonism
Dystonia, segmental/multifocal
Delayed motor development
Tremor (any or unspecified)
Oculogyric crisis
Dystonia (any or unspecified)
Autonomic sign/sympt.
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Bradykinesia
Hypotonia
Yes
C
n.a.
0
11
n.a.
Hypotonia
Lower limb dystonia
Dystonia/Parkinsonism
Dystonia, cervical
Diurnal fluctuations
Decreased body weight
Intellectual developmental disorder
Delayed motor development
Dystonia (any or unspecified)
Residual motor signs
Parkinsonism
Gait difficulties
Hyperreflexia
Tremor (any or unspecified)
Dystonia, segmental/multifocal
Oculogyric crisis
Developmental delay
Cognitive impairment
Dystonia, limb
Short stature
Autonomic sign/sympt.
Dyskinesia
Bradykinesia
Rigidity
Upper limb dystonia
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Dystonia, cervical
Oculogyric crisis