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