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