De Carvalho Aguiar, 2010: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
O
BRA
6
21
Yes
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, limb
Dystonia, axial
Dystonia, leg
Dystonia, hand
Dystonia, tongue
Dystonia, cervical
Dystonia, arm
Dystonia, foot
Dystonia, craniofacial
Dystonia, jaw
Dysphonia
Dystonia, laryngeal
Dystonia, lower face
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Dystonia, arm
p.Met1?: het
Yes
O
BRA
4
12
Yes
Dystonia, hand
Dystonia, jaw
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, foot
Dystonia, limb
Dystonia, lower face
Dystonia, craniofacial
Dystonia, tongue
Dystonia, axial
Dystonia, generalized
Dystonia, laryngeal
Dystonia, leg
Dystonia, arm
Dysphonia
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Dystonia, leg
p.Met1?: het