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