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, lower face
Dystonia, laryngeal
Dystonia, jaw
Dysphonia
Dystonia, craniofacial
Dystonia, foot
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, generalized
Dystonia, tongue
Dystonia, axial
Dystonia, leg
Dystonia, cervical
Dystonia, hand
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Dystonia, arm
p.Met1?: het
Yes
O
BRA
4
12
Yes
Dystonia, hand
Dystonia, axial
Dystonia, arm
Dystonia, foot
Dystonia, limb
Dystonia, leg
Dysphonia
Dystonia, generalized
Dystonia, cervical
Dystonia, jaw
Dystonia, craniofacial
Dystonia, laryngeal
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, lower face
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Dystonia, leg
p.Met1?: het