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