Clot, 2009: 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
♀
H
GTM
1
3
No
Upper limb dystonia
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Rigidity
Dystonia, limb
Gait difficulties
Dystonia/Parkinsonism
Lower limb dystonia
Hypotonia
Delayed motor development
Parkinsonism
Diurnal fluctuations
Residual motor signs
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Dystonia (any or unspecified)
Yes
♀
n.a.
n.a.
n.a.
24
n.a.
Tremor (any or unspecified)
Developmental regression
Lower limb dystonia
Dystonia, axial
Developmental delay
Depression
Delayed motor development
Dystonia (any or unspecified)
Cognitive impairment
Intellectual developmental disorder
Dystonia, generalized
Parkinsonism
Dystonia, limb
Resting tremor
Hypotonia
Gait difficulties
Dystonia/Parkinsonism
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Dystonia (any or unspecified)
Hypotonia
Yes
♀
n.a.
n.a.
1
7
n.a.
Developmental delay
Tremor (any or unspecified)
Rigidity
Resting tremor
Parkinsonism
Cognitive impairment
Postural instability
Hypotonia
Delayed motor development
Intellectual developmental disorder
Dystonia/Parkinsonism
Dystonia, limb
Spasticity
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Lower limb dystonia
Upper limb dystonia
Sleep benefit
Diurnal fluctuations
Myoclonus
Gait difficulties
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Hypotonia
Dystonia (any or unspecified)