Dulovic-Mahlow, 2019: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♂
C
POL
9
21
No
Dystonia, axial
Dystonia, craniofacial
Tremor (any or unspecified)
Dystonia, hand
Dystonia, lower face
Tremor, limb
Dysphonia
Dystonia,task-specific
Torticollis
Dystonia, cervical
Dystonia, laryngeal
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, jaw
Blepharospasm
Dystonia, generalized
Dystonia, leg
Dystonia, arm
Dystonia, foot
Show more (+16)
n.a.
p.Arg29*: het