Djarmati, 2009: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
DEU
9
35
No
Dystonia, oromandibular
Dystonia, lower face
Dystonia, tongue
Torticollis
Dysarthria
Dystonia, arm
Dystonia, limb
Dystonia, foot
Dystonia, jaw
Dystonia, craniofacial
Dystonia, leg
Dystonia, cervical
Sleep benefit
Dystonia, hand
Dystonia, laryngeal
Dystonia (any or unspecified)
Alcohol responsiveness
Dystonia, generalized
Dystonia,task-specific
Dystonia, axial
Dysphonia
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Dystonia, hand
Yes
C
DEU
10
68
Yes
Dystonia, oromandibular
Dystonia, hand
Torticollis
Dystonia, limb
Dystonic tremor
Tremor, limb
Dystonia, laryngeal
Postural tremor
Tremor (any or unspecified)
Dystonia, cervical
Dystonia, arm
Dystonia, craniofacial
Tremor, action
Dystonia, leg
Tremor, head
Dystonia, segmental/multifocal
Dystonia, foot
Dystonia,task-specific
Dystonia (any or unspecified)
Dysphonia
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Dystonia, hand
No
C
DEU
n.a.
40
Yes
Tremor, limb
Tremor (any or unspecified)
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Torticollis
Dystonia, limb
Dystonia, arm
Tremor, action
Dystonia, cervical
Postural tremor
Dystonia,task-specific
Dystonic tremor
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n.a.
No
C
DEU
n.a.
70
Yes
Dystonic tremor
Dystonia, cervical
Dystonia (any or unspecified)
Tremor (any or unspecified)
Dystonia, arm
Tremor, limb
Dystonia, limb
Dystonia, segmental/multifocal
Postural tremor
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n.a.