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, leg
Dystonia, jaw
Dystonia, generalized
Dystonia, limb
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, tongue
Dystonia, lower face
Dystonia, arm
Dystonia, craniofacial
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Dystonia, arm
Yes
n.a.
n.a.
4
52
Yes
Dystonia, lower face
Dystonia (any or unspecified)
Dystonia, tongue
Dystonia, laryngeal
Dystonia, jaw
Dystonia, limb
Dystonia, leg
Dystonia, generalized
Dystonia, arm
Dystonia, cervical
Dystonia, craniofacial
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Dystonia, leg
Yes
n.a.
n.a.
9
38
No
Torticollis
Dystonia, limb
Dystonia,task-specific
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, hand
Dystonia, cervical
Dystonia, segmental/multifocal
Dystonia, axial
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Dystonia, arm