Krause, 2015: 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.
20
n.a.
Yes
Torticollis
Dystonia, limb
Dystonia (any or unspecified)
Retrocollis
Dystonia, segmental/multifocal
Dystonia, cervical
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n.a.
p.Met1?: het
No
n.a.
n.a.
10
n.a.
Yes
Dystonia, limb
Dystonia, cervical
Dystonia, oromandibular
Dystonia, axial
Dystonia, laryngeal
Dystonia, generalized
Dysarthria
Dystonia (any or unspecified)
Dystonia, craniofacial
Show more (+6)
n.a.
p.Met1?: het
No
n.a.
n.a.
n.a.
n.a.
Yes
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, focal
n.a.
p.Met1?: het
No
n.a.
n.a.
7
n.a.
Yes
Dystonia, tongue
Dystonia, axial
Dystonia,task-specific
Dystonia, craniofacial
Dystonia, generalized
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, oromandibular
Dystonia, limb
Dystonia, hand
Show more (+8)
Dystonia, leg
Dystonia, hand
p.Met1?: het