Kabakci, 2004: Overview of all reported DYT-TOR1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
DEU
18
21
n.a.
Alcohol responsiveness
Dystonia, axial
Torticollis
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, hand
Dystonic tremor
Tremor (any or unspecified)
Dystonia, foot
Tremor, head
Dystonia, limb
Dystonia, cervical
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Dystonia, cervical
Yes
C
TUR
2
n.a.
Yes
Spasticity
Dystonia, generalized
Anarthria
Dystonia, laryngeal
Dystonia, leg
Dystonia, axial
Dystonia, hand
Dystonia, cervical
Dystonia (any or unspecified)
Torticollis
Dystonia, limb
Motor delay
Hyperreflexia
Global developmental delay
Delayed speech and language development
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Spasticity
Yes
C
DEU
6
20
Yes
Dystonia, hand
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, arm
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Dystonia, hand
Yes
C
SRB
31
68
Yes
Tremor, limb
Dystonia, oromandibular
Dystonia, leg
Dystonia, cervical
Dystonic tremor
Torticollis
Dystonia, hand
Tremor, head
Sleep benefit
Alcohol responsiveness
Dystonia, craniofacial
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, generalized
Myoclonus
Tremor (any or unspecified)
Dystonia, task-specific
Dystonia, lower face
Tremor, action
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Dystonia, hand
No
C
SRB
45
50
Yes
Torticollis
Dystonia, cervical
Dystonia, task-specific
Dystonia (any or unspecified)
Dystonia, focal
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Dystonia, cervical
Yes
C
DEU
8
n.a.
Yes
Tremor (any or unspecified)
Dystonia, hand
Dystonia, laryngeal
Dystonia, arm
Dystonia, leg
Dystonia, limb
Dystonia, axial
Dystonia, generalized
Dystonia (any or unspecified)
Alcohol responsiveness
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Dystonia (any or unspecified)