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, craniofacial
Alcohol responsiveness
Dystonia, jaw
Dystonia, axial
Sleep benefit
Torticollis
Dystonia, laryngeal
Dystonia, limb
Dystonia, hand
Dystonia, foot
Dystonia, leg
Dystonia, oromandibular
Dysarthria
Dystonia, lower face
Dystonia, cervical
Dysphonia
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia,task-specific
Dystonia, tongue
Dystonia, arm
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Dystonia, hand
Yes
C
DEU
10
68
Yes
Dystonia, leg
Dystonia (any or unspecified)
Tremor, action
Dystonia, cervical
Tremor, head
Dystonia, foot
Dystonia, craniofacial
Dysphonia
Dystonia, segmental/multifocal
Dystonic tremor
Dystonia, oromandibular
Dystonia,task-specific
Torticollis
Tremor (any or unspecified)
Dystonia, arm
Postural tremor
Dystonia, hand
Tremor, limb
Dystonia, laryngeal
Dystonia, limb
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Dystonia, hand
No
C
DEU
n.a.
40
Yes
Dystonic tremor
Dystonia, limb
Tremor, action
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, cervical
Torticollis
Tremor (any or unspecified)
Dystonia,task-specific
Dystonia, arm
Postural tremor
Tremor, limb
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n.a.
No
C
DEU
n.a.
70
Yes
Tremor, limb
Dystonia, cervical
Dystonia, limb
Tremor (any or unspecified)
Postural tremor
Dystonia, segmental/multifocal
Dystonia, arm
Dystonia (any or unspecified)
Dystonic tremor
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n.a.