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