Jech, 2011: 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
CZE
8
15
Yes
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, jaw
Dystonia, leg
Dystonia, limb
Dystonia, tongue
Dystonia, cervical
Dystonia, arm
Dystonia, craniofacial
Dystonia, laryngeal
Dystonia, axial
Dystonia, hand
Dysarthria
Dystonia,task-specific
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Dystonia, hand
p.Pro30Arg: het
No
C
CZE
15
20
Yes
Dystonia, limb
Dysarthria
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, hand
Dystonia, foot
Dystonia, lower face
Dystonia, segmental/multifocal
Dystonia, jaw
Dystonia, craniofacial
Dystonia,task-specific
Dystonia, tongue
Dystonia, oromandibular
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Dystonia, hand
p.Pro30Arg: het