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