Blanchard, 2011: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
7
50
Yes
Dystonia, jaw
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, laryngeal
Dystonia, lower face
Dystonia, craniofacial
Dystonia, generalized
Dystonia, tongue
Dystonia, leg
Dystonia, arm
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Dystonia, arm
Yes
n.a.
n.a.
4
52
Yes
Dystonia, craniofacial
Dystonia, leg
Dystonia, limb
Dystonia, laryngeal
Dystonia, tongue
Dystonia, lower face
Dystonia, arm
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, jaw
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Dystonia, leg
Yes
n.a.
n.a.
9
38
No
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, segmental/multifocal
Dystonia, limb
Torticollis
Dystonia, axial
Dystonia, cervical
Dystonia, hand
Dystonia,task-specific
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Dystonia, arm