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, leg
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, laryngeal
Dystonia, jaw
Dystonia, cervical
Dystonia, hand
Dystonia,task-specific
Dysarthria
Dystonia, craniofacial
Dystonia, axial
Dystonia, generalized
Dystonia, limb
Dystonia, tongue
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Dystonia, hand
p.Pro30Arg: het
No
C
CZE
15
20
Yes
Dysarthria
Dystonia, hand
Dystonia, segmental/multifocal
Dystonia, foot
Dystonia, oromandibular
Dystonia, craniofacial
Dystonia, limb
Dystonia,task-specific
Dystonia, lower face
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, tongue
Show more (+10)
Dystonia, hand
p.Pro30Arg: het